Telephone Receiver Research Articles

Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound

Abstract Skeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the medical termination of pregnancy was subsequently done. The fetus had shortening of the limbs (micromelia) with long bones (shaped like a telephone receiver), a small conical thorax, a protuberant abdomen, increased skin thickness with a cloverleaf skull, and macrocephaly. The relevant details and review of literature pertinent to the case are hereby discussed.

Acting and Race in Night of the Living Dead (1968)

Acting and Race in <i>Night of the Living Dead</i> (1968)

Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA.

Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by episodic involuntary movement attacks triggered by sudden movements, acceleration, or intention to move. We ascertained two Japanese familial cases with PKD. The proband is a 22-year-old woman who had noted sudden brief (<30 s) of involuntary movements provoked by kinesigenic trigger such as starting to run, getting on a train, picking up a telephone receiver and so on at the age of 14. Interictal brain single photon emission computed tomography (SPECT) showed hyperperfusion in the left thalamus. A 46-year-old woman, the mother of the proband was also suffering from brief attacks triggered by starting to run in her high school days. On neurological examination, both showed no abnormality. Whole exome sequencing combined with rigorous filtering revealed two heterozygous nonsynonymous variants (NM_001447: c.8976G > C [p.Gln2992His] in FAT2 and NM_015678: c.8596C > T [p.Arg2866Trp] in NBEA). Real time quantitative PCR analysis of Nbea mRNA levels in the developing rat brain revealed peak at postnatal day 28 and decline at postnatal day 56. This result might match the most common clinical course of PKD from the point of view of the most common age at remission. NBEA has been reported to be responsible for neurodevelopmental disease accompanied by epilepsy. We concluded the variant in NBEA most likely to be responsible for our familial cases of PKD.

A Rare Case: Genetically Confirmed Newborn with Thanatophoric Dysplasia Type 1 (TD1)

Thanatophoric dysplasia (TD) is the most frequent sporadic lethal skeletal dysplasia with an incidence about 1 in 17.000–50.000 births. Diagnosis of TD can made at prenatal period by ultrasound and immediately after birth based on clinical examination, radiologic studies, histopathology and molecular analysis. Thanatophoric dysplasia is subdivided in two dinstinct phenotypes: 1) Thanatophoric dysplasia type 1 (TD1) is characterized by curved ‘‘telephone receiver’’ femora and mild craniosynostosis or 2) Thanatophoric dysplasia type 2 (TD2) includes straight femora and cloverleaf skull. Girl baby was born from 44 years old female with 35th weeks of gestation (WOG) with non-consanguineous marriage. The patient looked lethargic accompanied with rapid breathing with chest indrawing. On examination the patient looked dysmorphic, large head with frontal bossing without clover leaf skull, upper and lower limbs were extremely short. Babygram showed head was large, thoracic cavity was small and narrow, the ribs were short, and “telephone receiver” like curved femora was noted. Mutational analysis confirmed a heterozygous allele p.Tyr373Cys mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. The patient was diagnosed with TD1. The general condition and respiratory distress did not improve and the patient was died on the sixteenth days of hospitalization. Thanatophoric dysplasia type 1 was rare disease and lethal case. The diagnosis based on clinical examination, radiologic studies, histopathology and molecular analysis. Lethality in thanatophoric dysplasia is caused mainly by respiratory distress due to a narrow thorax.

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innovation, emergency medicine, tourniquet: innovation, emergency medicine, tourniquetFigureFigureFigureThe tourniquet has certainly had its share of critics. We'll never know how much of the negative press was from improper education, poor logistics, or prolonged application times, but the criticism has persisted since the Civil War even though no evidence substantiates any particular opinion. The criticism was mostly anecdotal, and negative results were likely due to flawed medical infrastructure, not the device. Emergency tourniquets have now achieved a certain degree of respectability. Bolstered by the United States' military medical experience in Iraq and Afghanistan, emergency tourniquets have been found to be truly life-saving without being limb-compromising, as long as they are in place for no more than two hours. Success overseas prompted medical experts to advocate for using emergency tourniquets in civilian emergency medical services. A growing contingent within the medical infrastructure is calling for commercial tourniquets and appropriate training even for the general public, especially in light of our recent tragic mass-shooting events. Commercial tourniquets have already been introduced at public venues adjacent to or within automated external defibrillator stations. This makes perfect sense because the first responders in any mass-casualty incident are usually civilians. What if commercial tourniquets are not available? We can use an improvisational one. This is a last-resort device because complications could develop depending on its design, construction, or material, but it can save lives if the extremity is actively hemorrhaging and no one else is around, as was reported in several disaster situations. We came up with a laundry list of items that could be found anywhere to serve as improvisational tourniquets, and developed a simulation model to test our theory. A 1-2 kg pork loin stood in for an adult's upper extremity or a child's lower extremity. It was encased in netting and polyethylene food wrap, and placed in a serving tray. Surgical tubing (1-2 mm diameter) attached to an IV bag of normal saline was inserted into a tunnel in the pork loin, and a 3-4 cm incision (the wound) was made in the pork down to the tubing. Adding the Windlass Then we began collecting and using various common items as a tourniquet (e.g., scarves, ties, belts, scrubs, etc.). We tested each item's efficacy by measuring how much fluid was in the tray once we opened the IV and applied the tourniquet (time limit: 1.5 minutes). Each of us is of a different weight, size, and strength, which gave us confidence in our initial results. We measured the fluid accumulation for each of our attempts, and used that as our individual control and documented the results. We then repeated the tests but added an improvisational windlass (e.g., dry-erase markers, trauma shears, pens, mosquito hemostats, Schnidt forceps, etc.). We discovered that the windlass was a critical part of the tourniquet. The amount of IV fluid each of us lost was much less than the amount lost during our control experiments using the windlass. Using a dress-tie tourniquet only, the fluid loss by each researcher was 144 cc, 102 cc, and 102 cc for the three researchers. We added a routine hemostat as the windlass, and the fluid loss dropped to 36 cc, 60 cc, and 29 cc. It took effort, however, to twist these objects to achieve cessation of the hemorrhage. Next we tried using a telephone receiver. It was the best improvised windlass we tested, a benefit because telephones are found virtually everywhere. Repeating the same experiment but adding the phone receiver windlass, the fluid loss was 26 cc, 22 cc, and 12 cc. Not only was the phone receiver easy to apply, it was the easiest to twist and stopped the flow of fluid virtually immediately.FigureWe learned from our experiments that a pork loin can serve as a relatively inexpensive model for improvisational tourniquet training. We also found that a windlass is an important aspect in stopping a severe extremity hemorrhage. Applying pressure while twisting the windlass is critical because it's virtually impossible to tuck it into the tourniquet proper like you can with the commercial variety. Many items can serve as a windlass, but the phone receiver appears to be the most efficacious one to stop a major bleed quickly and is more ubiquitous than other items. We have tweaked our “Impede-the-Bleed” educational program for our students based on this preliminary study, teaching them how to make an improvisational tourniquet using a phone receiver when nothing else is readily available. Share this article on Twitter and Facebook. Access the links in EMN by reading this on our website or in our free iPad app, both available at www.EM-News.com. Comments? Write to us at [email protected].

The cerebellar “tilted telephone receiver sign” enables prenatal diagnosis of PHACES syndrome

To describe a unique posterior fossa neuroimaging characteristic of prenatal PHACES syndrome (PS): unilateral cerebellar hypoplasia (UCH) and ipsilateral posterior fossa (PF) cyst communicating with an asymmetrically distended 4th ventricle. The registries of seven prenatal diagnosis centers were searched for cases with PF findings and a postnatal diagnosis of PS. All records were evaluated for ultrasound and MRI findings and the postnatal outcome. PS was diagnosed after birth according to the consensus statement on diagnostic criteria for PS from 2009. The imaging findings of the PS fetuses were compared to a group of consecutive cases with fetal UCH, whose postnatal diagnosis was not PS. The PS group included 10 fetuses. All were referred due to UCH accompanied by an ipsilateral retrocerebellar cyst. All pregnancies resulted in livebirths, all newborns had a large segmental facial hemangioma. In all PS fetuses the affected cerebellar hemisphere was upwardly displaced by an ipsilateral PF cyst communicating with an asymmetrically distended 4th ventricle. An upwardly rotated and deviated vermis merged with the contralateral cerebellar peduncles forming an elongated oblique connection between the cerebellar hemispheres, resulting in a unique cerebellar shape, "a tilted telephone receiver sign" (TTRS), on the coronal plane through the upper vermis.The non-PS group included 11 fetuses with UCH: clastic cerebellar lesions (8) and a unilateral PF arachnoid cyst (3). The TTRS was not depicted in any of them (p<0.0005). The cerebellar TTRS is a specific fetal imaging feature of PHACES syndrome enabling its prenatal diagnosis.

A compact planar inverted-F antenna with U-shaped strip for all-metal-shell handset application

A compact dual-band planar inverted-F antenna (PIFA) with U-shaped strip is proposed in this work for all-metal-shell mobile telephone application. As metal-shell handsets are getting more and more popular nowadays, it raises a big challenge in antenna design as the metal-shell associated with surrounding electronic components like front-back-cameras and telephone receiver would affect the antenna performance. This work provides an optional solution to alleviate this problem, where the metal shell of the handset and a U-shaped strip are utilized as part of the antenna. The proposed antenna is able to generate radiation at 2.4 GHz for Wi-Fi application with the help of the metal shell while using the U-shaped strip can achieve a resonance at 1.575 GHz for GPS application. A prototype has been fabricated to verify the radiation performance in a practical handset test environment.

Climate Change and Victorian Studies: Introduction

Climate Change and Victorian Studies: Introduction Elizabeth Carolyn Miller (bio) Frances Ferguson has memorably described “the sharp, sudden consciousness” of climate change as one that “comes upon us like the ominous tones of an intruder bent on murder when the babysitter picks up the telephone receiver in a horror film: ‘I’m in the house’” (33). There is no refuge from this stranger within, nor from the feelings of panic his phone call incites. As I write these words, in the summer of 2018, the phone is ringing off the hook: above the Arctic Circle, record highs of 33°C/92°F were measured in Finland; a new record was set in Oman when the temperature did not drop below 42°C/108°F for twenty-four hours.1 Closer to home, outside my window, California is on fire. Extreme heat and dryness brought an early, vicious start to fire season, and in the Carr Fire near Redding, more than a thousand homes have burned down and seven people have died.2 The sky outside my office is thick and gray, and the air quality is poor—a reminder of these nearby conflagrations and the fiery future they portend. Our climate is changing, but must Victorian studies change too? The real question is, how could it not? For scholarship depends on scholars, and no matter how hard we try to inhabit a detached critical perspective, none of us are writing from Mars. Heatwaves, smoky skies, an incessant phone ringing in the background: these are the conditions in which we work. Sometimes these conditions take on an aspect of cosmic irony; in September 2017, members of the Vcologies working group met at the University of Houston to exchange work-in-progress on Victorian ecologies and ecological thought, and as it turned out, our meeting would take place in the immediate aftermath of Hurricane Harvey, a record-breaking storm that drew its strength from record-high ocean temperatures. Institutional and economic advantages mean, of course, that [End Page 537] many academics have been relatively well protected from the ravages of climate change so far—my office window keeps the smoke outside, the University of Houston did not flood—but five miles north of the university, in a historically Black neighborhood with a high flood risk, house after house was turned inside out: the sodden, wrecked contents of homes were piled in the street, pianos next to baby dolls next to lampshades (fig. 1). Click for larger view View full resolution Fig. 1. Kashmere Gardens, Houston, September 16, 2017. Photograph by Nathan K. Hensley. If these circumstances dictate—and I think they do—that climate change must move into every field of academic debate and every part of the university curriculum, it is equally the case that unique aspects of nineteenth-century Britain and its Empire make our field particularly connected to the topic of climate change. For one thing, the geographies of climate change, including urban flood plain maps, bear a historical relation to European and American imperialism, and in a devastating turn of imperial modernity’s screw, the impacts of climate change are now being borne disproportionately by those least responsible for them and least able to weather them. Thus Upamanyu Pablo Mukherjee begins Natural Disasters and Victorian Empire with a discussion of Hurricane Katrina, arguing that ideas about natural disaster today “grew out, in important ways, of the British imperial experience in nineteenth-century Southeast Asia” (2). Similarly, while it would be too simplistic to say [End Page 538] that Victorian England is answerable for the climate crisis, it would also be an error to discount its unique historical role in cultivating the fossil fuel economy and the resulting surge in greenhouse gas emissions.3 The “workshop of the world,” as Benjamin Disraeli famously referred to industrial England, relied on coal combustion to accelerate production and speed transportation, forever transforming the scope of consumption habits, global trade, and imperial market-making (Disraeli n. p.). Just as the climate has changed, then, our understanding of the past must transform along with it, and indeed, conventional notions of past, present, and future are troubled in any account of anthropogenic climate change...

A Frequency-Reconfigurable Tuner-Loaded Coupled-Fed Frame-Antenna for All-Metal-Shell Handsets

A frequency-reconfigurable frame-antenna integrated with a coupling strip and tuner loading is proposed for all-metal-shell mobile telephones. The coupling strip introduces additional capacitance to the feeding structure of the antenna, rendering the antenna to resonate at both the lower frequency band at “a quarter-wavelength resonant mode” and the higher frequency band at “a half-wavelength resonant mode”. Moreover, the antenna loaded with a tuner achieves broadband frequency-reconfiguration by tuning the effective length of radiating frame. The antenna is designed by taking into consideration all the metallic components, like front-and-back cameras, telephone receiver, and a steel sheet. The metal-frame and metal-shell of the handset coupled with a strip are used as parts of the antenna. This paper of a prototype operating in a practical handset test environment shows that the proposed antenna is able to cover the bandwidth of 824–960 MHz (GSM) and 1710–2690 MHz (DCS/PCS/UMTS/LTE) with acceptable radiation efficiency up to 40% and desirable patterns and specific absorption ratio, which is much lower than 1.6 W/kg for mobile communications.

500 years of humanoid robots automata have been around longer than you think [Resources_Review

When science fiction critics Eric S. Rabkin and Robert E. Scholes argued in the 1970s that "no one would go through the trouble of building and maintaining a robot to hand wash clothes or pick up the telephone receiver," they were apparently unaware that Japanese researchers had already made a long-term commitment to develop humanoid robots that could do exactly that. The goal was to care for the elderly in the 21st century. To this end, throughout the 1980s and 1990s, industrial giants Honda, Mitsubishi, and Toyota, as well as university research labs around the world, began demonstrating humanoid prototypes. More recently, the desire to operate in disaster sites like Fukushima has motivated even more researchers to explore humanoid designs. But the dream of humanoid robots goes back much further than the 1970s. The Science Museum, in London, took a shot at plumbing this history with its recent Robots exhibition. (The exhibition closed in September, but it will be touring locations throughout the United Kingdom until 2019.) The exhibition is a visually dazzling display of human creativity and mechanical engineering from the 1500s to today. Visitors are welcomed by a blinking, stretching android baby, perhaps representing the infancy of automation displayed in the first section, dubbed “Marvel.” A video clip of an early Spanish automaton monk, some exquisite clocks, and an 18th-century silver swan automaton represent a period when, the curators argue, “likening the human body to clockwork...led to the creation of the earliest robots.” Well, maybe.

Thanatophoric dysplasia: A case report with probable recurrence

Thanatophoric dysplasia (TD) is a congenital, sporadic, and the most lethal skeletal dysplasia caused by new mutation in the fibroblast growth factor receptor 3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies), and macrocephaly. TD is divided into two clinically defined subtypes: Type I and II which can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight forward in diagnosing the congenital anomaly. We report a case of preterm stillborn female baby with dysmorphic facies, macrocephaly, micromelia with short stubby fingers and deep skin creases, short limbs, narrow thorax, and protuberant abdomen delivered at our hospital to a 24-year-old multigravida mother with the previous history of first-trimester abortion. The antenatal ultrasound examination showed shortening of long bones with femur-shaped like a telephone receiver. Dysmorphic facial feature, skeletal abnormalities, and histopathological examination lead us to make the diagnosis of TD Type I. We report this case of TD in view of recurrence risk of around 1%, occurring mostly through autosomal dominant mode of inheritance, which may be the possibility in this case.

Degraded telecoil performance with assistive listening systems

For more than 50 years, telecoils have been used in hearing aids to bypass the microphone, inductively couple to the telephone receiver, and improve audibility. Because they are widely used in European teleloop systems for public address applications, stringent homologation testing is required before a device is accepted in any government contract. This testing includes benchmarking the performance of their directional nature, frequency response, signal-to-noise, and robustness to orientation within the inductive field. Optimizing a telecoil for one situation usually means degraded signal to noise and reduced bandwidth in other situations. This presentation will discuss susceptibility of telecoils to perform poorly due to environmental factors related to position and orientation.

Evaluation of a wireless audio streaming accessory to improve mobile telephone performance of cochlear implant users

Objective: The objective of this study was to evaluate the potential improvement in word recognition in quiet and in noise obtained with use of a Bluetooth-compatible wireless hearing assistance technology (HAT) relative to the acoustic mobile telephone condition (e.g. the mobile telephone receiver held to the microphone of the sound processor). Design: A two-way repeated measures design was used to evaluate differences in telephone word recognition obtained in quiet and in competing noise in the acoustic mobile telephone condition compared to performance obtained with use of the CI sound processor and a telephone HAT. Study sample: Sixteen adult users of Nucleus cochlear implants and the Nucleus 6 sound processor were included in this study. Results: Word recognition over the mobile telephone in quiet and in noise was significantly better with use of the wireless HAT compared to performance in the acoustic mobile telephone condition. Word recognition over the mobile telephone was better in quiet when compared to performance in noise. Conclusions: The results of this study indicate that use of a wireless HAT improves word recognition over the mobile telephone in quiet and in noise relative to performance in the acoustic mobile telephone condition for a group of adult cochlear implant recipients.

Thanatophoric Dysplasia: A Case Report

Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and macrocephaly. TD is divided into two clinically defined subtypes: type I and II with some clinical overlap between the two subtypes. They can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight forward in diagnosing the congenital anomaly. We report a case of pre term fresh stillborn baby with dysmorphic facies, macrocephaly, micromelia with short stubby fingers and deep skin creases, narrow thorax and protuberant abdomen which delivered at our hospital. The ultrasound examination showed shortening of long bones with femur shaped like telephone receiver. Dysmorphic facial features and skeletal abnormalities in the baby lead us to make the diagnosis of TD type I. Because of the rarity of this condition we report this case of thanatophoric dysplasia with a short review of literature.

Thanatophoric dwarfism

Thanatophoric Dwarfism (TD) literally meaning ‘death seeking dwarf’ in Greek, is the most common form of sporadic lethal skeletal dysplasia. This condition is both sporadic and autosomal dominantly inherited and is characterized by severe micromelia, short limbs, short ribs, narrow thorax, macrocephaly, coarse facial features, brachydactyly, hypotonia and X-ray features of ‘telephone receiver hand’ femur. TD has an estimated prevalence of 0.28 to 0.60 per 1000 births. In this study we report the clinical profile, radiological features and detailed genetic work up of the case with relevant review of literature. Currently, specific therapeutic regiments do not exist. Prenatal diagnosis is available by ultrasonography and molecular studies.

Historic transducers: Balanced armature receiver (BAR)

The oldest telephone receiver is the Balanced Armature Receiver (BAR) type, and it is still in use. The original technology goes back to the invention of telephone receiver by A. G. Bell in 1876. Attraction and release of the armature are controlled by the current from the coils, which generates electromagnetic fields [Hunt (1954) Chapter 7, and Beranek and Mellow (2014)]. As the electrical current goes into the electric terminal of the receiver, it generates an AC magnetic field which direction is perpendicular to the current. Due to the polarity between the permanent (DC) magnet field and the generated AC magnetic field, an armature (which sits within the core of the coil and the magnet) feels a force. The very basic principles for explaining this movement in a gyrator, a fifth circuit element introduced by Tellegen in 1948, along with an inductor, a capacitor, a resistor, and a transformer. This component represents the anti-reciprocal characteristic of the system. This study is starting from comparing the BAR type receiver to the moving-coil loud speaker. We believe that this work will provide a fundamental and clear insight into this type of BAR system.

Acquisition of compassion among physicians: why is this rite different from all other rites?

DOI: 10.1200/JCO.2013.51.6104 In the process of forming professional identities, physicians undergo several important rites of passage. In addition to memorable milestones such as scrubbing into surgery for the first time or cutting into a cadaver, apprentices in medicine must acquire a broad fund of knowledge, develop diagnostic acumen, hone procedural dexterity and communication skills, and learn the “culture” of medicine, such as how to interact with consultants, colleagues, and allied health care workers. But novice physicians also have a core need to retain an essential trait that they often have in abundance at the outset of training: empathy. In the midst of reminiscing at the last Seder, I realized that my most formative experience with physician communication had been accidental. For me, one physician’s apparent lack of compassion profoundly affected the course of my life—as did an empathetic intervention by someone dear to me. I remember April 2, 1972—the fifth day of Passover—as the day when I was told, “Daddy is very sick.” On that day, along with my mother, older brother, and younger sister, I boarded a subway train en route to one of the finest cancer centers in Manhattan, if not the world. We didn’t realize it then, but as we were ushered into a gloomy room to witness the skeletal shadow of a man who had loyally served in the US Air Force before excelling in track for the City College of New York, we were saying good-bye for the last time. My childhood recollection is that my father was buff, and that the most prominent attribute of his physique was his lower-extremity strength. His muscular legs had the diameter of tree trunks— oaks. A few months before that difficult April day, business trips (spelled “hospital admissions”) began to preoccupy him, or so we were told. I’m still not certain how my parents managed to pull off the ruse (with our subconscious compliance, no doubt), but before that most memorable of all Passovers, my siblings and I had not understood Dad’s absences. In the hospital, seeing only thin wooden sticks remaining to support the man who had once anchored the 4 100 meter relay team for City College, we began to get the picture. Looking back, I realize also that, during our visit, my father was overmedicated with pain-relieving drugs. He was, as cancer specialists say, “gorked out.” As we approached his bed, he could barely lift a laminated card from the nearby tray and thrust it into my palm. It was a menu, covered with fingerprints and smelling of institutional food. I had no idea why my father gave it to me. I was uncomfortable and immature, and I began to giggle. Suddenly, I felt a sharp elbow in my ribcage. Some of those pain medicines would have helped right about then, but instead of pharmacologic assistance, I got a quick lesson in life from my older brother. Without words, Joe was explaining that Daddy was inviting us to lunch—that the gesture was our father’s sickbed attempt to continue to be our provider. I hardly spoke to my brother then, and I don’t speak to him enough today, but I always know when he’s right. Joe pointed to the tuna salad, and I recovered quickly enough to gesture straight toward the dessert section. I think I remember Dad cracking a smile. At least, that’s what I want to remember. On the way home to Brooklyn after the visit, our family did not process what had happened. Two days later, an hour after my mother lit the holiday candles, our phone rang. Somehow, each of us recognized this ring as foreboding. Although the act was an overt violation of the Orthodox laws of Judaism that were observed in our household, we picked up the telephone receiver. On the other end of the line, a physician communicated the news, “Mrs Corn, your husband expired 30 minutes ago. May we perform an autopsy?” Silence. Mom had the look of someone who was shocked but not surprised. I am sure she had known that a call like this was imminent; still, her stunned reaction was exacerbated, no doubt, by the abrupt way in which the bad news was transmitted. Holding the Princess phone, her hand quivered. We helped her hang up the receiver. I have no ill feelings toward the doctor. He was probably an overworked intern or resident still learning his craft, asked by his superiors to perform a JOURNAL OF CLINICAL ONCOLOGY A R T O F O N C O L O G Y VOLUME 32 NUMBER 14 MAY 1

Lethal short limb dwarfism: thanatophoric dysplasia- type I.

A 30-year-old, mother, delivered a 2.6 kg term female child by caesarean section, in view of brow presentation and failure of induction of labor. Antenatal ultrasound of mother at 5th and 7th month had detected a fetus with short curved limbs and small chest, with a suspicion of achondroplasia. At birth, the neonate was noted to have dysmorphic features, macrocephaly, midfacial hypoplasia, depressed nasal bridge, low set ears, short limbs, short narrow thorax with lumbar lordosis [Table/Fig-1,​,2]2] . Radiological survey of the child clinched the diagnosis of Thanatophoric Dysplasia (TD) Type I [Table/Fig-3]. Echocardiography screening revealed atrial septal defect, ventricular septal defect and patent ductus arteriosus with severe pulmonary hypertension. [Table/Fig-1]: Reveals frontal bossing, depressed nasal bridge, prominent eyes, short neck, short and narrow thorax, short limbs [Table/Fig-2]: Lateral view of the neonate shows large head, short neck, prominent forehead, low set ears and lumbar lordosis [Table/Fig-3]: Ray- Skeletal Survey : Skeletal Survey shows short bowed long bones with bullous end, short ribs, narrow thorax, handle bar appearance of clavicle, vertebral bodies short end superiorly & inferiorly, dysplastic acetabuli with flat acetabular roof, ... Skeletal dysplasias constitute a heterogeneous group of bone growth disorders resulting in abnormal shape and size of the skeleton. TD is the most common lethal osteochondrodysplasias with a prevalence of 1:20,000 to 1:40,000 births [1]. It is characterized by marked underdeveloped skeleton and short-limb dwarfism. The term ‘thanatophoric’ derived from the Greek word “thanatophorus”, means “death bringing” and was first described by Maroteux [1,3]. TD is caused by activation of FGFR3 gene located on the short arm of chromosome 4 leading to negative regulation of bone growth [1,2]. The activation of FGFR3 in a majority is due to denovo mutations. There are two clinical types of TD which closely resemble in their clinical features; however have distinct radiological features and genetic mutations [3]. In Type I TD, the amino acid arginine, at 248 position, is substituted by cystine and in Type II TD the lysine at 650 position is replaced by Glutamate in most cases[1]. Type 1, the more commonly encountered form is characterized by a normal-shaped skull and curved (telephone receiver shaped) long bones, especially seen in femur bone, whereas type II is associated with a cloverleaf-shaped skull and straight femurs [1-3]. The phenotypic features of TD range from severe shortening of limbs, macrocephaly, frontal bossing, wide fontanel’s, cloverleaf skull, prominent eyes, to long narrow bell shaped thorax resulting in pulmonary hypoplasia [3]. Radiological features are short, cupped and anteriorly splayed ribs with severe hypoplasia of pelvic bones, 4short and flared femur with medial spike (telephone receiver shaped in Type I), large calvarium with short base and small foramen magnum, cloverleaf skull and thin flat vertebrae. The pelvis characteristically shows decreased vertical height and increased horizontal width of iliac bones with flat acetabulae [2]. The diagnostic sonographic criteria are severe rhizomelic-micromelia with bowing of long bones [3]. The metaphyseal ends can have a thorn like projection secondary to prominent ossification resulting in ‘Maple leaf like’ contour of metaphysis of tubular bones. The close differential diagnoses of TD, includes osteogenesis imperfecta type II and III, which is characterized by fracture of long bones and achondrogenesis characterized by extreme hypomineralization. Other rarer differentials include achondroplasia, perinatal hypophosphatemia, campomelic dysplasia and hypochondrogenesis [3]. Prognosis for TD is grim, with stillbirths or deaths occurring during early neonatal period because of respiratory failure due to lung hypoplasia or brain stem compression due to underlying hydrocephalus [3]. Postnatal treatment involves life-support measures, parental counselling and provision-of-comfort care for the newborn [2]. Prenatal diagnosis and genetic counselling can be done with the help of antenatal ultrasonography and/or molecular studies, especially for fetuses with short limbs. Early and timely detection of lethal forms on antenatal scans will help in obstetricians and parents to take decision regarding option of medical termination of pregnancy [1,3].

Rapid Prototyping Design of 3D Models by Reverse Engineering

The digital measurements of the back cover of a telephone receiver were carried out by a three dimensional measuring machine and the data point clouds of the contours were got. Using reverse engineering software, Imageware, the data point clouds were processed, including of data smoothing, data reducing, data point clouds resample, feature lines extracting and curve fitting. Based on the shape features of the research object, the 3D model of the back cover of the telephone receiver were reconstructed with the boundary curves and the scanning data point groups successfully. Precision evaluation was carried out to the 3D model and the error controlled within 0.2mm.

A bi-phase enabled serial acquisition system for remote processing of digitized ECG

This paper presents an approach for acquiring digitized ECG samples in a personal computer using an offline communication technique. For this, two standalone embedded modules are placed at the two ends of the communication link. The transmit end module collects ECG samples from the source and stores them in a RAM. Finally it converts each data byte into a bi-phase encoded bit stream for transmission using a standard telephone set through post office telephone line. The receive-end module, coupled with the telephone receiver decodes the ECG data, and then delivers them to a desktop computer through the serial port. An application software in the computer is used to store these samples for visual inspection. The detailed architecture and test results are discussed with synthetic ECG data available from PTB diagnostic ECG database (ptb-db) under Physionet.