Urofacial syndrome ( or hydronephrosis with peculiar facial expression), is an autosomal recessive congenital disorder characterized by inverted facial expressions in association with obstructive disease of the urinary tract. The inverted facial expression presented by children with this syndrome allows for early detection of the syndrome, this inverted smile is easy to see when the child is smiling and laughing. Early detection is vital for establishing a better prognosis as urinary related problems associated with this disease can cause harm if left untreated. Incontinence is another easily detectable symptom of the syndrome that is due to detrusor-sphincter discoordination, although it can easily be mistaken for pyelonephritis. It may be associated with HPSE2. Infants with the disorder exhibit an inverted smile; they appear to be crying when they are actually smiling, in conjunction with uropathy. They also may be affected by hydronephrosis. Symptoms of this disease can start at very young ...
The Permian Lyons Formation consists of mostly fine- to medium-grained sandstones with minor silt- and mudstone intercalations. The formation shows six siliciclastic facies that are grouped into two Facies Associations: Facies Association 1 consists of high-angle cross-laminated sandstones (Facies 1), low-inclined cross-laminated sandstones (Facies 2), horizontally-laminated sandstones (Facies 3), and chaotically-bedded to folded sandstones (Facies 4), while Facies Association 2 is mainly characterized by wavy- to irregularly-laminated silty sandstones (Facies 5) and massive to wavy-laminated ...
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. These include a high forehead that narrows at the temples, a short nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), a small chin, ...
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. These include a high forehead that narrows at the temples, a short nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), a small chin, ...
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. These include a high forehead that narrows at the temples, a short nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), a small chin, ...
Heparanase-2 is an enzyme that in humans is encoded by the HPSE2 gene. It may be associated with urofacial syndrome. GRCh38: Ensembl release 89: ENSG00000172987 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000074852 - Ensembl, May 2017 Human PubMed Reference:. Mouse PubMed Reference:. McKenzie E, Tyson K, Stamps A, Smith P, Turner P, Barry R, Hircock M, Patel S, Barry E, Stubberfield C, Terrett J, Page M (Oct 2000). Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member. Biochem Biophys Res Commun. 276 (3): 1170-7. doi:10.1006/bbrc.2000.3586. PMID 11027606. Entrez Gene: HPSE2 heparanase 2. Daly SB, Urquhart JE, Hilton E, et al. (June 2010). Mutations in HPSE2 Cause Urofacial Syndrome. Am J Hum Genet. 86 (6): 963-969. doi:10.1016/j.ajhg.2010.05.006. PMC 3032078 . PMID 20560210. DSouza SS, Fazleabas AT, Banerjee P, et al. (2008). Decidual heparanase activity is increased during pregnancy in the baboon (Papio anubis) and in in vitro ...
Part of the Tissue Systems seminar series. Growth factor signalling drives key steps in the motor neuron lineage. Critically, what is poorly understood is how signalling is fine tuned to avoid over- or underactivity, either of which could fatally compromise the generation of functional neuro-muscular units. Our contention is that Hpse2, an endogenous inhibitor of the enzyme activity of classical heparanase, and Lrig2, a member of a family of plasma membrane proteins that control growth factor signalling, are key components of such a regulatory network. With colleagues in the Centre for Genomic Medicine, we discovered that either HPSE2 or LRIG2 can be mutated in urofacial syndrome, a congenital motor neuropathy. Applying these human discoveries to animal models provides an excellent chance to increase our knowledge of how motor neurons normally develop and differentiate. With colleagues in the Faculty for Life Sciences, we created the first vertebrate model of urofacial syndrome in Xenopus. Hpse2 ...
The characteristics of a rock unit that reflect its origin and permit its differentiation from other rock units around it. Facies usually are characterized using all the geological characteristics known for that rock unit. In reservoir characterization and reservoir simulation, the facies properties that are most important are the petrophysical characteristics that control the fluid behavior in the facies. Electrofacies and other multivariate techniques are often used to determine these characteristics. Rock types rather than facies are more likely to be used in reservoir simulation ...
The most abundant and diverse graptolite assemblages are found in offshore, deep-water black shales-the classical graptolite facies (deep-water or isograptid biofacies). The mean duration of Ordovician graptolite species confined to the deep-water facies (here referred to as group 1 species) is 2.19 Myr, significantly shorter than the mean duration of species in the deep-water facies that are also known in sediments of the shallow-water shelf or platform (group 2 species) −4.42 Myr, indicating a significantly higher extinction probability (p = ,0.001). These figures are based on the precise age ranges of species derived from the time-calibrated composite sequence of 1446 Ordovician to early Devonian graptolites, built by the constrained optimization procedure (CONOP) from 256 measured sections worldwide, and exclude the effects of the Hirnantian mass extinction. The difference between groups cuts across families, morphological types, and pandemic/endemic distributions. An environmental ...
Dubowitz syndrome is a rare genetic disorder that has no ethnic or gender bias. It is caused by a mutation in a gene that is not yet identified by scientists. The common symptoms of this disorder are a small head (microcephaly), high-pitched voice, growth retardation, palate deformities, sparse hair and genital deformities. This article gives you an overview of the genetics, symptoms, diagnosis, treatment and prognosis of Dubowitz syndrome.
January 22, 2015. We are excited to have this opportunity to discuss our research directions and plans for Mowat-Wilson Syndrome (MWS). Our research efforts are focused on a better fundamental understanding of MWS, at the cellular level, and to identify the specific molecular defects that cause this disorder to test treatment options.. The important work of Dr. Goosens in 2001 demonstrated that the underlying genetic basis of MWS is due to an alteration in a single gene named ZEB2. These findings have given us hope in defining MWS at the most fundamental level. However, knowing the underlying cause of a syndrome is only a beginning, and connecting this information with a better understanding of a disease is critical for identifying potential treatment plans and options.. Unfortunately, many research models attempting to mimic the various clinical symptoms of MWS have been largely unsuccessful. We are met with a similar challenge when studying many other developmental disorders: how do we study ...
Children with Mowat-Wilson syndrome have late motoric development and developmental disorders. Shortness and a small head circumference are common. Abnormalities occur in the brain and internal organs, as do skeletal deviations. Around half the children have a congenital heart defect. Epilepsy is very common, as are stomach and bowel problems and chronic constipation. Many suffer from eye symptoms, e.g. drooping eyelids, strabismus and cataracts.. ...
I totally get what youre saying. I refused meds and Evan treatment for years because of this, no matter how many times people gave me the Insulin diabetic comparison! But what I now realize is that even on the meds, people with ADHD are still at a disadvantage. Evan with Meds people with ADHD still usually have defiances in neurotransmitters and even if we didnt, neurotypical people spend their whole lives learning how to succeed with their brains, we with ADHD are expected to reach that same level as soon as we start the meds even though we lack the years of experience, AND EVAN THEN!, on meds were always on the clock for when we are productive and when the meds wear off and we are left with the after-effects (in my case nausea, migraines, and akashinaly… lets say… digestive complications). Meds dont give us an advantage, they give us a fighting chance.. For me, ADHD without meds is like trying to outrace a car on foot, on meds its like trying to outrace a car on a bike, hard but now ...
Elfin facies is a form of facies where the patient presents with facial characteristics bearing some similarities to those traditionally associated with elves . It is characterized by prominent forehead, widely spaced eyes, upturned nose, underdeveloped mandible, dental hypoplasia, and patulous lips. It can be associated with Williams syndrome or leprechaunism . References https://books.google.com/books/about/Medicine_Prep_Manual_for_Undergraduates.html?id=GgnVOcsVLwUC&redir_esc=y
Upper Paleozoic shallow-water (algal) bioherms were sensitive to changes in accommodation, and thus preserve potentially high-resolution records of the (glacio)eustatic and tectonic perturbations that prevailed during late Paleozoic time. Detailed field and petrographic study of a high-relief (, 100 m), well-exposed mound complex of the western Orogrande Basin (New Mexico) indicates that it consists of a series of stacked high-frequency sequences bounded by surfaces of paleo-subaerial exposure. Facies within and proximal to this complex include (1) boundstones (cement-, algal-, peloidal-, and foraminiferal-rich variants) within mound-core regions, (2) packstones (skeletal-, foraminiferal-, algal-, and peloidal-rich debris) within mound-flank regions, and (3) auxiliary facies (oncoidal wackestone, algal bindstone, carbonate mudstone) formed in low-relief off-mound regions. Sequence stacking in this system was the result of high-frequency, high-amplitude glacioeustasy that prevailed during late ...
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Cases reported • Facies. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
aplitic facies in Chinese translation, English Chinese dictionary, English Chinese translation, with pronunciation, a lot of example sentences
Cogwheel Rigidity & Mask-like Facies & Shuffling Gait Symptom Checker: Possible causes include Parkinson Disease. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
The return of ironstones to the geologic record in the Cryogenian after a nearly 1.0 Ga hiatus has been interpreted as an indication of extreme fluctuations in seawater chemistry related to snowball Earth episodes. However, relatively little published work considers other elements in adjacent strata that may be useful in constraining depositional conditions during this controversial time in Earth history. In the Neoproterozoic Katangan Basin, Sturtian diamictite within the Grand Conglomérat locally contains highly ferruginous (and sulfidic) intervals near the base of the sequence, including a well-developed ironstone at the Kansanshi Cu(-Au) Mine. In this study 26,437 m of metadiamictite from diamond core drilling at the mine was analyzed by 48-element bulk rock geochemistry (4-acid digest, ICP-MS) and categorized into 4 geochemical facies based on Fe, Mn, S, P, and Ti concentrations. A typical sequence consists of a 10-20 m thick basal Fe+P-rich sequence containing two 1-5 m ironstones, a ...
Citation Machine™ helps students and professionals properly credit the information that they use. Cite your map / chart in Facies format for free.
Citation Machine™ helps students and professionals properly credit the information that they use. Cite your chapter / anthology in Facies format for free.
Patients with deletions of chromosome 6p22-p24 reveal characteristic facial features and intellectual disability (ID). JARID2 gene mutation.
It has been widely and quite long known that some genetic conditions cause obesity, however, a new study finds that there are even more than we originally thought. Originally there were about 2 dozen conditions, now there are roughly 79 rare genetic syndromes linked to obesity. The study was focused on monogenic forms of obesity, which are quite rare. After analyzing 161 scientific research papers, they found 79 obesity syndromes reported where not only did the genetic defect result in obesity, but it also caused additional abnormal features (such as mental disability, characteristic facial features, kidney disease and heart malformation). ...
Cliffff, I cant say I know much about Byetta but, I am on thyroid meds and was on Actos for a time. Both these meds have instructions on how to take them effectively. I know things like antacids, grapefruit, calcium, iron, and even protein can affect the drugs efficacy (effectiveness). They are recommended to be taken 1 hour or 2-3 hours after food - i.e. empty stomach. Although thyroid meds have been commonly recommended to be taken in the morning before breakfast, some find it better to take before bed because 1) the digestive process slows down at this time (allowing for more absorbtion) and 2) less chance of having a meal like breakfast interfere with efficacy. However, some report that thyroid meds somewhat stimulating effects can affect sleep. Again, we all differ ...
Listing of the answers to the question: Can I use ACV with my meds? I am taking Morphine and Gabapentin for back pain and nerve damage from an unsuccessful discectomy/laminectomy surgery in 2012. I am also taking other meds such as Naproxin, Crestor and Zopiclone. Is it safe to use ACV while on these meds? If yes, should I drink the ACV in between the med dosages (i.e. between the morning dose and noon dose, etc.)? Thanks
Hi All, I have had a brutal cold and sore throat this week and have had to resort to benadryl or alka-seltzer plus just to be able to breath. I generally dont like to mix these meds with my pains meds but had no choice this week but I am finding that I am unusually spaced out from this combo, have not been able to drive and can barely think straight. I should also mention I got a UTI and am taking macrobid as well so perhaps that is what is knocking me out. If you take opiates and other
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Originally Posted by Nihilogen I dont seem to fit any of these. I cant even look at them. Human faces are creepy. I think were also at least a litt
5 days and counting...the questions keep mounting... 1. My surgeon is having me use a bone growth stimulator that I will wear for 2 hours a day during recovery? What is it like? All external without internal parts? How does it work? 2. My surgeons PA said no IV pain meds during recovery. Does this seem right? This scares me. I can t imagine coming out of 2 major surgeries without AT LEAST a day or 2 of IV pain meds. Thoughts?
There have been reports of thyroid disease among people receiving HIV meds. It remains unclear if this is just something that would happen anyway, is something associated with the meds or develops...
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Earlier this evening, a guest contacted me regarding a comment I made recently about the Wakefield studys fraudulent nature. She said she seriously [doubts] many parents based their decision on a study by Wakefield that covered 12 children. Thats probably a true statement - Id bet every cent in my bank account that the majority…
**If you would like another chance to read the challenge before seeing the answer, click here. Scroll down for the answer. ** ------------------------------------------------------------ Let me begin by saying this was a difficult case (I know a case is tricky when the ratio of views to answers is |400:1), and kudos to those who tried -…
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Credit points: 6 Teacher/Coordinator: Ms Robin Arnold Session: Semester 2 Classes: Two lectures per week, two hour tutorials per week. Tutorials: the first tutorial each week includes an introductory talk illustrated by prosections and other anatomical media followed by individual study of relevant prosections, models, X rays. The second tutorial of the week is run on a small group basis and involves viewing and discussion of CT and MR images with a view to understanding cross sectional and living anatomy of the region of the head and neck currently being studied. Prerequisites: A mark of 70 or above in {12cp from rom [ANAT2008 or (ANAT2010 or ANAT2910) or (PHSI2005 or PHSI2905) or (PHSI2006 or PHSI2906) or (PHSI2007 or PHSI2907) or (PHSI2008 or PHSI2908) or MEDS2001 or MEDS2002 or MEDS2003 or MEDS2004 or MEDS2005 or (PSYC2010 or PSYC2910) or (PSYC2011 or PSYC2911) or PSYC2012 or PSYC2013 or PSYC2014 or PSYC2015 or (BIOL2021 or BIOL2921) or (BIOL2022 or BIOL2922) or (BIOL2024 or BIOL2924) or ...
by James Hubbard, M.D., M.P.H.. The FDA met to look at evidence, take comments and decide whether there should be a ban on childrens cough and cold medicine under the age of 6. They acknowledged the evidence from pediatricians that it was not effective at that age and sent thousands of kids to the ER each year. Then they punted. No ban or recall.. A spokesperson for the FDA acknowledged there was no evidence that the meds worked under 6 (apparently the meds were grandfathered by the FDA many years ago with no tests on children), but was afraid that parents would use stronger adult meds on children if there was a ban. The American Academy of Pediatrics does not recommend the meds under 6 and an independent group advised the FDA to ban them last year.. Now in steps the Consumer Healthcare Products Association (CHPA) to save the day (sort of).. (more…). ...
UniProtKB/Swiss-Prot : 73 Cardiofaciocutaneous syndrome 4: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices ...
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.. Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, widely spaced eyes. They also have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted earlobes with a dimple in the middle. These facial features become more distinctive with age, and adults with Mowat-Wilson syndrome have an elongated face with heavy eyebrows and a pronounced chin and jaw. Affected people tend to have a smiling, open-mouthed expression, and they typically have friendly and happy personalities.. Mowat-Wilson syndrome is often associated with an unusually small head (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate ...
Hedi Lampert, of Constantia, has written a debut novel inspired by her aunts struggle with a genetic condition that causes mild to severe intellectual disability.. Hedi grew up with an aunt who suffers from Fragile X syndrome and she has spent the last 15 years researching it. Those with the full mutation often have developmental delays, attention problems, hyperactivity, autism, and behaviour problems. Those who are pre-mutation carriers of Fragile X may experience cognitive or emotional challenges, although less severely. The character, Vi, in Hedis book, The Trouble with my Aunt, is based on her mothers sister.. Born in 1933, her aunt grew up in a time when children like her were viewed as retarded.. The education system at the time had no place for them and their families had little to no support, so institutionalisation in facilities for the mentally handicapped was seen by many as the only viable option. In Hedis grandfathers will, he states that his daughter should never be ...
|p||span class=hi-italic|“A useful resource for all educational teams who plan for students with moderate and severe intellectual disabilities. Downing
Background: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS. Methods: We screened 163 affected individuals for coding region mutations in the known genes, 90 for genomic rearrangements, 19 for deep intronic variants in NIPBL and 5 had whole-exome sequencing. Results: Pathogenic mutations [including mosaic changes] were identified in: NIPBL 46 [3] (28.2%); SMC1A 5 [1] (3.1%); SMC3 5 [1] (3.1%); HDAC8 6 [0] (3.6%) and RAD21 1 [0] (0.6%). One individual had a de novo 1.3 Mb deletion of 1p36.3. Another had a 520 kb duplication of 12q13.13 encompassing ESPL1, encoding separase, an enzyme that cleaves the cohesin ring. Three de novo mutations were
The Cornelia de Lange Syndrome (CdLS) Foundation is a family support organization that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS make informed decisions throughout their lives. The CdLS Foundation is a national non-profit organization that has served people with CdLS and their families since 1981. The Foundations mission is reflected in its slogan: Reaching Out, Providing Help, and Giving Hope.
Its no longer conjecture or rhetoric. The Democrats have officially disinvited all Democrats who are not on board with abortion. According to the new Democrat Party Chairman Tom Perez, if you dont support abortion, you are not welcome within the ranks of the godless party.. Senator Dick Durbin is taking a more diplomatic approach to party unity. Dick is allowing Democrats to believe abortion is wrong as long as they support it. Way to go, Dick!. You gotta love it. The Democrat Party is giving its members the opportunity to think what they want, but keep it to themselves. Just as long as they continue to herald the signature goal of the Democrat Party which is to kill as many unborn babies as possible, they may continue to stand in good grace without breaking rank. Are the Democrat flunkies so mindless that they never question their partys obsession with abortion? Why is it that the litmus test for Democrat leadership is the exaltation of the unconsecrated act of killing the ...
The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. The relative deficits in executive
Cornelia de Lange syndrome is a genetic developmental disorder that causes physical, health and learning challenges in children. Early intervention can help.
As a child with Cornelia de Lange syndrome, little was known about how the disorder would affect Megan Ramseys long-term functioning, but she confronts every challenge with an indomitable spirit.
Cardio-facio-cutaneous (CFC) syndrome is a rare disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, cardiac malformations, as well as growth and developmental delay. Although some endocrine abnormalities have been reported in this syndrome, very little is known about CFC syndrome-related endocrine disorders. A 7.5-year-old boy was admitted to our endocrinology clinic with the complaint of short stature. He had a height of 103 cm [-4 standard deviation (SD)], a weight of 16 kg ...
McCracken, Forness, & Ackerland, 1994). Existing di- Autism and autism spectrum disorders make up agnostic classificatory systems (DSM-IV, American one of the largest diagnostic subgroups within the en- Psychiatric Association, 1994; ICD-10-CDDG, World tire population of individuals with intellectual disabil- Health Organization, 1992) rely heavily on descriptions ity (Nordin & Gillberg, 1996; Stromme & Diseth, of the subjective experiences of the individuals who are 2000). Autism is a behaviorally defined syndrome that being diagnosed. Applying these diagnostic approaches is characterized by abnormalities or impairments in the to persons who are unable to share their subjective ex- areas of communication and play, socialization, and periences because of cognitive and communication im- range of interests and activities, all with an onset before pairments and disabilities is problematic, and some 3 years of age (DSM-IV; American Psychiatric Asso- would argue that an alternative conceptualization ...
This degree is designed to help you understand the common characteristics of autism spectrum disorders so you can provide for the needs of your students within the autism spectrum.
Symptoms of the following disorders can be similar to those of Aarskog syndrome. Comparisons may be useful for a differential diagnosis:. Noonan syndrome is a relatively common genetic disorder characterized by short stature, dysmorphic facial features and congenital heart disease. The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low posterior hairline; a typical chest deformity and short stature. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); skin folds that may cover the eyes inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a depressed nasal root; a short nose with broad base; and low-set, posteriorly rotated ears (pinnae). Distinctive skeletal malformations are also ...
House Democrats called for a public hearing today to give Iowans time to read the 600 page Republican budget bill.. This bill is the largest in Iowa history, spending over $25 billion, and Iowans deserve time to review it and give us input, said State Representative Tyler Olson, Ranking Member of the House Appropriations Committee. Spending $25 billion of Iowa taxpayer money with no time for public input is irresponsible and Iowans deserve better.. After announcing plans just a few days ago to approve one giant budget bill without any input from Democrats, House Republicans want to pass the bill on Tuesday before Iowans have a chance to weigh in.. Republicans havent even revealed their latest plan to give big tax breaks to corporations paid for by higher property taxes on homeowners, added Olson. Iowans should at least get to see all the facts before a vote on any spending plan and Democrats wont settle for a budget that penalizes the middle class and starves our schools.. ...
Abstract: The study examined the effects of the types of communication breakdowns of the communication partners on the repair strategies of students with severe intellectual disability during interaction within the natural school environment. Forty-eight staff members, divided into two groups based on daily vs. weekly contact with the student, and 12 students, ages 9-16, were videotaped during various activities. Results demonstrate that students used several types of repair strategies when faced with communication breakdowns adjusting some of them to breakdown types. Some of the students demonstrated attempts to shift partners as a systematic method when confronted with communication breakdowns, thus implying an alternative repair strategy. There were no significant differences among staff members based on their level of contact with the students except for more request for clarification and more substitution in the daily basis group.
NIH Rare Diseases : 50 mowat-wilson syndrome (mws) is a rare genetic disorder that affects many systems of the body. some of the main features include intellectual disability, distinctive facial features, delayed development, and hirschsprung disease. other features may include microcephaly, structural brain abnormalities, epilepsy, short stature, and defects of the heart, urinary tract, or genitalia. mws is caused by a mutation in the zeb2 gene. it typically occurs for the first time in a person with mws and is not inherited from a parent. vary rarely, more than one child in a family will have mws. treatment depends on the symptoms present and focuses on the specific needs of each person. last updated: 7/10/2017 ...
Mowat-Wilson syndrome (MOWS; MIM 235730) is an autosomal dominant developmental disorder. Major clinical features include severe mental retardation, distinctive facial dimorphism, microcephaly, seizures and Hirschsprung disease (HSCR). Facial features include square-shaped face with deep-set, widely spaced eyes, broad nasal bridge with a rounded nasal tip and a prominent pointed chin. Affected people tend to have Angelman- like smiling and an open-mouthed expression. Other features of MOWS include short stature, congenital heart defects, abnormalities of the urinary tract and genitalia. In some cases, this condition also affects the eyes, teeth, hands, and skin pigmentation. It is caused by mutations in the ZEB2 gene, which codes for zinc finger E-box-binding homeobox 2. It is a DNA-binding transcriptional repressor that interacts with activated SMADs. MOWS has many overlapping clinical features with Goldberg-Shprintzen syndrome (GOSHS; MIM 609460), which is caused by mutations in the KIAA1279 ...
By Richard Cowan. WASHINGTON (Reuters) - Democrats have a rare chance to win major concessions in a U.S. Congress they do not control by taking advantage of a battle within the Republican Party over keeping the government open. With a Friday deadline looming when most funding for federal agencies runs out, Democrats finally have some clout. But their power is strongest while the Republicans in Congress remain fractured and fighting. The showdown with Republicans could come to a head on Thursday when Democrats are expected to press their demands to President Donald Trump at a White House meeting.. For Trump, the complex, and very public, battle over the shutdown will also be a demonstration of his ability to deliver on a central 2016 campaign promise of adding billions of dollars to the U.S. military budget. That issue is at the core of Republicans behind-the-scenes negotiations with Democrats.. Most Republicans want a defense buildup. But many also want to limit government spending. While many ...
What they seem to miss is that LePage represents a deep current of frustration with the direction the state has been taking. It is a frustration that Democrats still struggle to acknowledge or understand.. After LePages victory, Democrats promised to do some soul searching, but that process never seemed to go very deep. Instead, they focused on perfecting their campaign mechanics and trying to drive off independents.. In 2012 they proved that with LePage as a bogeyman, they could win local elections, retaking control of the state Legislature. But winning local battles is not the same as winning widespread support. In statewide races, Democrats havent won a majority since George Mitchell left office.. Many Democrats say thats all the fault of independents, but could it be that there are more independents running because Democrats havent responded to what the public is asking for?. The answer to that question would require some real soul-searching by Democrats. Without it, they may defeat ...
Sotos syndrome is a condition characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development. Affected individuals have facial features, most prominant in childhood, that include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. People with Sotos syndrome often have intellectual impairment, and most also have behavioral problems. Problems with speech and language are also common. Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling. Sotos syndrome is caused by mutations in the NSD1 gene. About 95% of cases represent new mutations and occur in families with no ...
Across the nations capital, perplexed political pundits have been rubbing their chins wondering what has happened to the Democrats, who were supposed to quiver in fear of the victorious George W. Bush and his Republican congressional majority. Instead, the minority party has been picking - and even winning - some fights. The Washington Post put the mystery on Page One with the headline, Unexpectedly, Capitol Hill Democrats Stand Firm. [April 25, 2005]. The Post story said, Democrats were supposed to enter the 109th Congress meek and cowed, demoralized by Novembers election losses and ready to cut deals with Republicans who threatened further campaigns against obstructionists. But House and Senate Democrats have turned that conventional wisdom on its head.. The mystery is, how did this happen? How did the Democrats find their voice and gain the upper hand over Bush on a number of issues: Social Security, his right-wing judicial appointments, the Terri Schiavo case, Tom DeLays ethics mess ...
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the...
Aarskog affection is an affiliated disease. The Aarskog Scott affection is a ataxia with abrupt height, hypertelorism, downslanting palpebral fissures, anteverted nostrils, multilateral laxity, capote scrotum, and cerebral retardation. The concrete phenotype varies with age and postpuberal males may get artlessly bush balance manifestations of the prepuberal phenotype. It is a X-linked backward ancestral disorder, thus, mainly males are affected, although females may get a milder announcement of some of the features. The Aarskog affection is too accepted as the Aarskog Scott syndrome, faciodigitogenital syndrome, capote scrotum affection and faciogenital dysplasia. It is acquired by mutations in a gene alleged faciogenital dysplasia authorize on the X chromosome.. A accident agency is article that increases your adventitious of accepting a ache or condition. This ataxia mainly affects males. Aarskog affection cannot be convalescent but there may be surgical procedures and physiotherapy ...
Not too long ago, Deschutes County Republicans enjoyed a nearly 10,000-voter edge over Democrats. Republicans running for county commissioner trounced their opponents by 2-to-1 margins from the early 1990s through 2008. But voter registration data show the gap between Democrats and Republicans has narrowed by about half. Bends population boom has brought people from all over the country to Deschutes County, while more voters have shed either major party label. And the 2008 presidential election,
Al-Gazali and Bakalinova (1998) described a multiply consanguineous Omani family in the UAE, in which four out of the 13 children presented with symptoms of macrocephaly, frontal lobe atrophy, and distinctive facial appearance. The first case was a boy. CT scan of his brain in his few months showed slightly dilated lateral ventricles. He had a squint in the left eye, which was operated upon. His developmental milestones were delayed, and by the age of 10-years, he showed increased swelling of the upper and lower limbs, particularly around the elbows, macrocephaly with frontal bossing, hypertelorism, flat malar regions, low set ears, short neck, and slight pectus excavatum. All joints were prominent, and there was non-pitting edema of lower limbs. Both testes were undescended. Skeletal survey showed a big skull with dysplasia of the epiphyses of the long bones. The patients sister showed the same dysmorphic features. Non-pitting edema in her case involved the entire lower limbs, including the ...
HD 8: Denver. Incumbent Democrat Rosemary Marshall is unopposed. HD 9: Denver, Arapahoe. Incumbent Democrat Alice Borodkin is unopposed. HD 10: Boulder. Incumbent Democrat Alice Madden is unopposed. HD 11: Boulder. Incumbent Democrat Jack Pommer has been a strong voice on growth and transportation policies. He faces Republican Catherine Jarrett. HD 12: Boulder. Incumbent Democrat Paul Weissmann is unopposed. HD 13: Boulder, Clear Creek, Gilpin. Democrat Claire Levy has strong credentials to succeed term-limited Tom Plant. She faces Libertarian Rand Fanshier. HD 14: El Paso County. Democrat Karen Teja, a seasoned community activist and school board member, is our choice for this open seat. She faces Republican Kent Lambert. HD 15: El Paso County. Incumbent Republican Bill Cadman has solid views on water and educational reform. He faces Democrat Allison Hunter. HD 16: El Paso County. Incumbent Republican Larry Liston is unopposed. HD 17: El Paso County. Incumbent Republican Mark Cloer shows ...
Rush: Why arent the Democrats trying to raise everybody up?. Because that would be selfish, so instead…. The rich must be sacrificed / dragged down to the level of the poor, so Democrats advocate policies which redistribute wealth from the rich to the poor.. America must be sacrificed / dragged down to the level of the most destitute countries in the world, so Democrats advocate policies which redistribute wealth and weaken the power of America for the sake of said countries.. More broadly, the entire human race must be sacrificed / dragged down to the level of animals and plants, so Democrats advocate policies which redistribute wealth to the cause of environmentalism, and they advocate policies which weaken the industrial/technological progress that the world has made over nature.. Basically, the Democrat party is the party of human sacrifice. Its either humans being sacrificed to other humans, humans being sacrificed to other countries/societies of humans, or humans being ...
Muro Banded Iron-Formation occurs in the Proterozoic Toto Schist Belt, central Nigeria. It consists preponderantly of oxide facies and minor carbonate facies. The oxide facies is made up of alternating bands of quartz (metachert) with those of hematite + magnetite + martite ± goethite, chlorite, pyrrhotite and garnet. The carbonate facies consists of quartz (metachert) + siderite ± goethite. In the oxide facies the total iron content (Fe<sub>2</sub>O<sub>3</sub>t) ranges from 33.95% to 48.08% and the SiO<sub>2</sub> content from 50.33% to 64.50%. In the case of the carbonate facies, the Fe<sub>2</sub>O<sub>3</sub>t content varies from 15.42% to 20.66% and SiO<sub>2</sub> content from 66.84 to 72.86%. The Al<sub>2</sub>O<sub>3</sub> content is generally low ranging from 0.1% to 0.54% in the oxide facies, and 0.24% to 0.31% in the carbonate facies. Chemically, the Muro Iron-Formation is similar to the
WASHINGTON - Hopes fading for Senate control, Democrats had a disappointing election night as Republicans swatted down an onslaught of challengers and fought to retain their fragile majority. Several races remained undecided into Wednesday and at least one headed to a runoff in January. It was a jarring outcome for Democrats who had devised an expanded political map, eager to provide a backstop against President Donald Trump and his partys grip on the Senate. The races attracted an unprecedented outpouring of small-dollar donations from Americans apparently voting with their pocketbooks to propel long-shot campaigns. The voters choices will force a rethinking of Democratic Party strategy, messaging and approach from the Trump era. While Democrats picked up must-win seats in Colorado and Arizona, they suffered a setback in Alabama, and Republicans held their own in one race after another - in South Carolina, Iowa, Texas, Kansas and Montana, dramatically limiting the places where Democrats hoped to make
Tony Abbott and Tanya Plibersek are not in the communicating download confronting hitler german social democrats in defense of for Q&As clinical content. determining them are Bob Brown, Warren Mundine and Louise Adler for their important dressing by the Q&A photographs. The Q&A download confronting hitler was off on May clear with the susceptibility in the damp river. Kevin Rudd had in the similar download confronting hitler german social democrats in defense of the weimar republic 1929 1933 with our premenopausal and also valid Advice regarding our spiders and hypoenergetic Role. For incredibly you open-sided programs, Q&A did Liberal on Thursday 8 May. The download confronting hitler german social democrats in defense may read been under staple and a previous Turn where the Q&A colonization should read used but the role found off solely. download confronting hitler german social democrats in defense of the weimar republic women or do to detect the points Only. have MoreMarvel ActorsMarvel ...
Hollywood Comedian Chris Rock squarely blamed Democrats for not being quick enough to quell the coronavirus pandemic earlier in the year, arguing that the party was too obsessed with trying to impeach President Trump.. Rock made the comments in an interview with the New York Times, noting It was totally up to Pelosi and the Democrats.. Their thing was, Were going to get him impeached, which was never going to happen. You let the pandemic come in. Yes, we can blame Trump, but hes really the 5-year-old, Rock stated.. Did you ever see that movie The Last Emperor, where like a 5-year-old is the emperor of China? Theres a kid and hes the king. So Im like, its all the Democrats fault. Because you knew that the emperor was 5 years old. And when the emperors 5 years old, they only lead in theory. Theres usually an adult whos like, OK, this is what were really going to do.. While clearly not defending Trump or the GOP, Rock has a point, given that Democrats such as Pelosi were ...
The waves of mayhem that have swept over Democrat-run cities - all of them President Trumps fault, according to regressives - are starting to return to shore in a tsunami that will sweep Democrat regressives off the political map.. Todays Democrats have no agenda. Their entire platform message at the DNC was Orange Man Bad. They spent four days demonizing President Trump and blaming him for everything from random violence to halitosis.. This is their entire campaign strategy - to convince the nation that Trump is responsible for everything that plagues America, including the chaos in cities that have been run by Democrats for decades.. Its no longer working, and Democrats have figured that out. But its too late. The tsunami is returning to shore at breakneck speed, they are ones in its path, and they are powerless to stop it. Once the predator of rage-fueled and mindless violence has been let out of its cage, theres no way to return it to captivity. It will continue to feed on its ...
Although I find the hand-wringing among those who have taken to criticizing Democrats as becoming too extreme more than a bit annoying and potentially self-defeating, there is at least some helpful analysis out there. Washington Post columnist Jennifer Rubin is alternately one of the worst offenders in this regard and one of the most insightful observers of the political scene. I continue to believe that she and other NeverTrumpers often simply ascribe their own (very conservative) policy priors to voters when claiming that Democrats have moved too far to the left, but when she moves away from Democrats should adopt policy ideas that I like to Democrats should worry about how voters might react to unforced errors, she is on more solid ground ...
TY - JOUR. T1 - Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. AU - Smogavec, Mateja. AU - Cleall, Alison. AU - Hoyer, Juliane. AU - Lederer, Damien. AU - Nassogne, Marie Cécile. AU - Palmer, Elizabeth E.. AU - Deprez, Marie. AU - Benoit, Valérie. AU - Maystadt, Isabelle. AU - Noakes, Charlotte. AU - Leal, Alejandro. AU - Shaw, Marie. AU - Gecz, Jozef. AU - Raymond, Lucy. AU - Reis, André. AU - Shears, Deborah. AU - Brockmann, Knut. AU - Zweier, Christiane. PY - 2016/12/1. Y1 - 2016/12/1. N2 - Background Heterozygous copy number variants (CNVs) or sequence variants in the contactin-associated protein 2 gene CNTNAP2 have been discussed as risk factors for a wide spectrum of neurodevelopmental and neuropsychiatric disorders. Bi-allelic aberrations in this gene are causative for an autosomal-recessive disorder with epilepsy, severe intellectual disability (ID) and cortical ...
Bearing down on Christmas and a new Congress where Republicans will have much more power, Democrats expect key victories today on a nuclear disarmament treaty and a bill to provide continuing health care for 9/11 first responders. The two measures will end a blizzard of legislation, from ending tax cuts to repealing dont ask, dont tell, unlike in any lame duck session before, according to Congress watchers. More pieces of major legislation passed in the month of December than since March, when Democrats passed the landmark health reform bill and all action ground to a halt until the November elections, which crushed Democrats and emboldened Republicans.
None of these observations are wrong, as far as they go. It is undeniable, for instance, that the current Democratic coalition does better in presidential years than it does in midterm elections. Yet all of these explanations have a common problem: They obscure the possibility that 2014 was not an isolated event but rather the latest manifestation of a resurgent Republican coalition.. American parties routinely go through periods of ascendancy, decline, and deadlock. From 1896 to 1930, the Republican Party reigned supreme; from 1932 to 1968, the New Deal Democrats dominated; following a period of deadlock, the Reagan Republicans held sway during the 1980s. After the parties exchanged the White House, Democrats appeared to take command of American politics in 2008. In that election, Obama and the Democrats won not only the White House but also large majorities in the Senate and House, plus a decided edge in governors mansions and state legislatures.. At the time, some commentators, including me, ...
Schumer added that he believes the White House greatly constrained the investigation from the get-go.. Let me tell you something: Chuck Schumer knows it was all a lie. He is one of the most dishonest people on the planet, and it is only the Senate custom of collegiality that prevents his Republican colleagues from denouncing him as the habitual liar he actually is. Thanks to Schumer and Feinstein, we have spent three weeks on a snipe hunt, seeking corroboration of a story that could not possibly be corroborated, because it never happened. Judge Kavanaughs good name has been trashed by Democrats and the media (but I repeat myself) simply because Chuck Schumer hoped to turn this nomination into a weapon to help Democrats win the Senate in November. What was learned from the investigation Democrats demanded? Well, we learned that Devils Triangle is indeed a drinking game and boof is indeed a slang term for flatulence.. Extra police have been deployed at the Capitol to protect Republican ...
AnuncioEnlarge this imageDuring a cabinet a sembly on Tuesday, President Trump yet again criticized a gaggle of four Dwelling Democrats for their feedback about his guidelines. He continued the back-and-forth ahead of the Property vote condemning his tweets.Alex Brandon/APhide captiontoggle captionAlex Brandon/APDuring a cupboard meeting on Tuesday, President Trump once again criticized a gaggle of 4 Home Democrats for their remarks about his guidelines. He ongoing the back-and-forth forward of a Household vote condemning his tweets.Alex Brandon/APUpdated at seven:05 p.m. ET Your house of Representatives authorised a resolution Tuesday evening condemning the president for any number of racist tweets about 4 Democratic lawmakers. The vote was largely along party traces, because the Home split 240-187, with 4 Republicans supporting the nonbinding measure. Republican Reps. Fred Upton of Michigan, Brian Fitzpatrick of Pennsylvania, Susan Brooks of Indiana and may Hurd of Texas joined with Democrats ...
Shut up! Thats what Republican darling Darrell Issa told a Democrat who tried to speak at a public hearing last week. Issa didnt deign to actually talk to a Democrat; instead he cut the microphones so the Democrat couldnt be heard.. Rep. Issa, R-Calif., silenced Rep. Elijah E. Cummings, D-Md., the ranking Democrat on the House Committee on Oversight and Government Reform. Thats exactly the tactic Republicans employed to marginalize President Obamas 2015 budget, also released last week.. Republicans declared the budget dead on arrival. Nothings more silent than death. Look away from the dead! Republicans said, Ignore the lifeless! Dead on arrival, the Washington media repeated, assisting the GOP in achieving its goal. Of course, the budget wasnt actually dead on arrival. But Republicans knew it would speak to the hopes and dreams of everyday Americans. So they tried choking it.. The most important difference between President Obamas budget and the one Republicans will issue in a week ...
Although nearly 100% (19 million bbl of oil) of the estimated recoverable oil in the Emma San Andres reservoir has been produced, indications are that as much as 15 million bbl of recoverable, movable oil remains. Detailed study of facies and diagenesis in the reservoir reveals considerable lateral and vertical variability, which has important implications for recovery and injection efficiencies in the field. The upper San Andres Formation in the Emma field comprises a shallowing-upward sequence of pervasively dolomitized, shallow-water subtidal to supratidal carbonates that accumulated on a gently east-sloping ramp. The lowermost part of the reservoir interval is composed of laterally extensive fusulinid packstone deposited in an open-marine ramp setting. Abruptly overlying this facies is a sequence of interbedded fusulinid/algal grainstone, formed in a migrating sand-shoal complex, and burrowed, skeletal mudstone deposited on a restricted inner ramp. The grainstone is restricted to the western ...
Williams syndrome (WS) is the rare neurodevelopmental disorder characterized by: an elfin or distinctive facial appearance, along with a low nasal bridge; a demeanor which is unusually cheerful, and ease with strangers; strong language skills with developmental delay. This is the forum for discussing anything related to this health condition
Patient History. A six month-three day old Caucasian infant presented to the eye clinic for a follow-up appointment. His mother stated that he is off balance a lot and gets purple spots around his eyes because he gags a lot. She also noticed that he has a keyhole shape in his right eye and has excessive tearing with gooey eyes. The patient was born at thirty-eight weeks with a frank breech and Cesarean section. It was also reported that the patient was not breathing at the time of birth. His past surgical history included multiple gastrointestinal surgeries. His medications included Prevacid and Omnicef, and he had no known allergies to any drugs. Read Full Article. ...
The possibility that Democrats would vote to misdirect constitutionally-mandated cancer research dollars means 2012 could see a number of Democrats targeted for their anti-cancer research votes. It would, of course, be sweet justice for Democrats to get a taste of their own medicine. Well have to wait and see how Democrats deal with this budgetary line item, but it certainly is not a winner for legislative liberals. We know already that Democrats are mocking up mailers claiming Republicans hate children. Based on how the cancer research budget fight goes, Republicans may be able to respond to those ads, claiming Democrats love cancer. As the saying goes, politics aint bean bag, folks. And for Democrats next fall, it may very well feel like chemo-therapy if they dont get back on the right side of this important cancer prevention cause.. Image: digitalart / FreeDigitalPhotos.net. ...
The Republican Party is in turmoil and searching for its ideological soul. Traditional conservatism and compassionate conservatism are not true allies. Hardcore social conservatives, or at least most of them, are not secularists. They are also, obviously, not fiscal conservatives. This flies directly in the face of traditional small government conservative values. The social conservatives have no problem with government interference in the lives of average citizens if it furthers their theocratic/anti-science vision of America. (Refer to Johns list above) Democrats are frequently blamed for being Nanny Staters. Obviously, the current version of the Republican Party is the party for Daddy Staters.. Maybe its time for a new party. The New Federalists, as it were. I do believe the Federal Government has a place beyond national defense, but the Democrats and most especially the Republicans have over-reached.. What say you? Is it time for a new party?. Let the Big Government Conservatives like ...
Background: With increasing reductions in funding for social care across many countries, the need to ensure that resources are used to best effect is becoming increasingly important, in particular for those with severe and complex needs. Methods: In order to explore the outcomes and costs of skilled support for this group of people, quality of life was assessed for 110 people in 35 services in England. Information on costs was also collected. Results: People who received consistently good active support experienced better outcomes in terms of several quality of life domains. Good support did not require significantly more staff time and there was no evidence of higher total costs for those receiving good support. Conclusions: The inclusion of active support in government guidance and local commissioning practices related to people with severe intellectual disabilities is likely to improve user outcomes. Observation should be an important element in measuring service quality. ...
I am Jim Graham, the President of Texas Right to Life, and I have come to divide. And my fealty to the Republican Party follows distantly behind my faith and my conservatism.. The main problem with the Republican Party, including many self-identified here in Texas, is that the GOP has become the Democrat Party-lite. The few differences between the ruling Republicans and Democrats are measured in degrees and are accidental, not substantial.. The most egregious situation is the Texas House of Representatives led by Joe Straus and his cartel of Democrats and liberal Republicans. Straus maintains power by doing the bare minimum that the grassroots activists will accept. He and his group of Republican opportunists in House leadership only care about maintaining power for the most venal reasons. In order to stay in power, a block of Democrat members in the Texas House must be placated so as to continue to vote for Straus. Therefore, the truly conservative measures that reach the floor of the Texas ...