Monday, December 11, 2017

Epilepsy Surgery: Insurance Company Blocks Minimally Invasive Brain Surgery

Image result for laser ablation epilepsy
Laser ablation surgery burns otherwise inaccessible target areas to stop seizures. 
I have had a refractory patient cured by laser ablation for epilepsy. This is outrageous.
I fear that the notion of "experimental is often abused to block care". JR

Girl has blunt message for Aetna after her brain surgery request was denied




The author of the story has a family member with an uncontrolled seizure disorder who does not medically qualify for either type of brain surgery mentioned in the piece nor has the family member been denied care by an insurance provider.

(CNN)Cara Pressman sobbed in the big red chair in her living room. The 15-year-old tried to absorb the devastating news relayed by her parents: that their insurance company, Aetna, denied her for a minimally invasive brain surgery that could end the seizures that have haunted her since she was 9 years old.

"When my parents told me, I went kind of blank and started crying," she said. "I cried for like an hour."

Her friends had been lined up to visit her in the hospital for the surgery three days away, on Monday, October 23. Between tears, she texted them that the whole thing was off.

It was supposed to be a joyous weekend. Cara's grandparents had come to town to celebrate their 90th birthdays, a jubilant party with more than 100 family and friends crowding her home. The party did go on -- just with a lot more stress.

Cara had multiple complex partial seizures that weekend. When the seizures strike, her body gets cold and shakes, and she zones out for anywhere from 20 seconds to two minutes, typically still aware of her surroundings. Her seizures can be triggered by stress, by being happy, by exerting herself -- almost anything. "It's like having a nightmare but while you're awake," she said.
In the six weeks since the denial, Cara has had more than two dozen seizures affecting her everyday life....


MORE HERE from CNN

and MORE HERE

Friday, December 01, 2017

TEA selling Special Education IEP data? What is the connection between ISD and SPEDX?


Do parents have recourse? More to follow... JR



Texas Education Association 

Firing leaves Texas without a special education director at a critical time


Updated 5:56 pm, Wednesday, November 29, 2017



AUSTIN - After just over three months on the job, the state's special education director was fired last week after she filed a federal complaint against the Texas Education Agency for awarding a multi-million dollar, no-bid contract to a company that is mining data on disabled students......

A few months before she was hired, TEA signed a $2 million contract with SPEDx, a Georgia-based data company, to analyze students' Individualized Education Program, or IEP. An IEP lays out a student's disability, their education needs and how a school intends to meet those needs.
In a presentation to school districts, TEA said SPEDx will analyze IEPs to "detect hidden patterns and insights" that can help the department better serve students. In September, TEA amended SPEDx's contract to $4.4 million dollars. TEA says it did not put the contract out for bid because data project requires specialized software that only SPEDx can provide.

Thursday, November 23, 2017

Great Discoveries and Creations In Sleep - Satisfaction The Periodic Table and more

Image result for einstein dream cows

Many great discoveries and creations have come from sleeping brain activity. So, got to sleep. Now. Really.  


Satisfaction - Keith Richards created this famous guitar riff while sleeping 


The Periodic Table  


Einstein's Theory of Relativity 


DNA’s double helix

The Terminator

Srinivasa Ramanujan's Therories

The Twilight vampire - Stephenie Meyer described her dream, “I woke up from a very vivid dream. In my dream, two people were having an intense conversation in a meadow in the woods. One of these people was just your average girl. The other person was fantastically beautiful, sparkly, and a vampire. They were discussing the difficulties inherent in the facts that they were falling in love with each other while the vampire was particularly attracted to the scent of her blood, and was having a difficult time restraining himself from killing her immediately.”

Yesterday by Paul McCartney -Paul McCartney composed the massively popular Yesterday song in his dream. After waking up, he replicated the song on his piano. He was worried of Cryptomnesia (copu ing others work). “For about a month I went round to people in the music business and asked them whether they had ever heard it before. Eventually it became like handing something in to the police. I thought if no-one claimed it after a few weeks then I could have it.
More HERE

Saturday, September 16, 2017

Houston Emergency DME - WheelChairs After Flooding & Hurricane Harvey


I thank my FB friends and other sources for this information.

Sources for Emergency DME - WheelChairs for Disabled People After Floods & Hurricane Harvey 


Mayor's Office for People with Disabilities http://www.houstontx.gov/disabilities/
Hurricane Harvey Resources for Houston Citizens
Mayor's Office for People With Disabilities
1475 West Gray, Box #10
Houston, TX 77019
PHONE: 832.394.0814
E-Mail the MOPD at mopdmail@houstontx.gov 



FEMA 
Resources for People with Access & Functional Needs  

Healthcare Ready Online Tool Helps Citizens and First-Responders with Access to Life-Saving Medicines https://www.healthcareready.org/harvey 

* Healthcare Ready has activated its free, interactive RxOpen map to show open and closed pharmacies in the region affected by Hurricane Harvey. Citizens and first responders are encouraged to use this map as an initial resource, and to call their pharmacy to ensure their specific medication is in stock.  

* Healthcare Ready is an independent emergency response and relief organization established after Hurricane Katrina. Healthcare Ready, created by PhRMA, has been working with PhRMA companies, healthcare providers, transportation providers, federal, state, and local governments, and many others to identify critical needs in the regions affected by disasters. Team members are working nearly around-the-clock to help the pharmaceutical industry provide relief to people in need. Real-time updates can be found by following Healthcare Ready on Twitter at @HC_Ready.  

* In the wake of Hurricane Harvey, Healthcare Ready is coordinating with officials at the U.S. Department of Homeland Security, FEMA, Health and Human Services, and other federal, state, and local agencies.Healthcare Ready helps citizens have ready access to medicines they need during and after the hurricane and related flooding.

Portlighthttp://www.portlight.org/  Hurricane Harvey and the subsequent catastrophic flooding have wreaked havoc in Texas and hurricane Irma is expected to bring devastation to the Caribbean, US Virgin Islands, Puerto Rico, Florida, South Carolina and other US states in it's path. The Partnership has set up a hotline (800) 626-4959 to refer people with disabilities who may be in the affected areas to locate services and resources they may need.

RSVP Texashttp://rsvptexas.org/  To refer a patient, volunteer, or for questions or more information, do not hesitate to contact us.
Phone: 855-825-RSVP (7787)
Fax: 855-825-8636
Online: info@rsvptexas.org

Partnership for Inclusive Disaster Strategies (the Partnership) http://www.disasterstrategies.org/

Texas Association of Community Health Centers 512-329-5959 info@tachc.org https://www.tachc.org/ Department of State Health Services, HSR 6/5 South Houston Phone: 713-767-3000 http://www.dshs.texas.gov/region6-5/default.shtm 

Trach Mommas of Louisiana National relief collaboration to help flood survivors who are medically complex, immune compromised or dependent on technology to stay alive. Deliveries are by appointment only. Email trachmommas@gmail.com for details. www.trachmommas.org/ in partnership with http://www.littlelobbyists.org/harvey 

Children with Special Health Care Needs (CSHCN) Services Program Specialty Health Care Services Helpline: 1-800-252-8023 In Austin: 512-776-7355 Email: cshcn@hhsc.state.tx.us ProjectMend Project MEND is committed to improving the quality of life for individuals living with disability and illness through the refurbishment, reuse and distribution of medical equipment and other assistive technology. 888-903-6363 (MEND) http://www.projectmend.org/

Texas Health and Human Services Aging and Disability Resource Centers (ADRCs) Help for older adults & people with disabilities 1-855-937-2372 Where do I call to get HHS Services: https://www.dads.state.tx.us/contact/search.cfm 

The AGE of Central Texas Health Equipment Lending Program AGE makes a wide variety of health and mobility equipment available to the community through free, no-time-limit loans of donated equipment. 512-600-9288 http://ageofcentraltx.org/help.php 

DME Exchange of Dallas To provide relief of pain and suffering for people with acute injury or illness and to improve the independence, self‐sufficiency and mobility of people with chronic illnesses, DME Dallas will collect, refurbish, sanitize and distribute used durable medical equipment (DME) to residents of Dallas County who cannot afford to purchase or rent it. Phone: 214-997-3639 Email: saustindmeexchange@gmail.com http://www.dfwdmeexchange.org/ 

ACCESS Health Clinic 6402 Louetta Rd. Suite 140 Spring, Texas 77379 info@accesshealthclinictexas.com http://www.accesshealthclinictexas.com/ 

Texas Public Health Organizations http://www.dshs.texas.gov/regions/lhds.shtm 

Centers for Disease Control and Prevention 800-CDC-INFO (800-232-4636), TTY: 888-232-6348 https://www.cdc.gov/ 

Coping with a Disaster or Traumatic Event https://emergency.cdc.gov/coping/index.asp SAMHSA's Disaster Distress Hotline 1-800-985-5990 (TTY for deaf/hearing impaired: 1-800-846-8517) or text TalkWithUs to 66746

Texas Temporary Assistance for Needy Families (TANF)
Support service for Texas families. The purpose of TANF is to provide financial and medical assistance to needy dependent children and the parents or relatives with whom they are living. Eligible TANF households receive monthly cash and Medicaid benefits. TANF uses state funds to provide cash assistance to families with two parents who both receive benefits with children deprived of parental support because of the unemployment or underemployment of a parent. https://www.yourtexasbenefits.com/ssp/SSPHome/ssphome.jsp

Texas Department of Human Service (DHS) toll-free at: 1-800-448-3927 e-mail: mail@dhs.state.tx.us


Food & Drug Administration (FDA) Disaster Info:

Safe Drug Use After a Natural Disaster https://www.fda.gov/Drugs/EmergencyPreparedness/ucm085200.htm

Information Regarding Insulin Storage and Switching Between Products in an Emergency
https://www.fda.gov/Drugs/EmergencyPreparedness/ucm085213.htm

Reporting Prescription Drug Sample Losses, Known Thefts, and Possible Diversion to the FDA in the Aftermath of a Natural Disaster
https://www.fda.gov/Drugs/EmergencyPreparedness/ucm085256.htm

Sunday, August 06, 2017

Severe CACNA1A alleles affect synaptic function and neurodegeneration differentially - New Publication

Essentially, this article demonstrates the clinical importance of genetics and of finding the rare people interested in your gene.

Genetic testing has implications for treatment.
1) The physician expected "patient one" to respond to acetazolamide based on the testing but she did not. This study demonstrates the process in an animal model. Why there are hints, the study doe not definitively explain why this happens.

Nature still has surprises.

​2) Loss of function changes associated with partial preservation of function.

JR
Im the 17th author (aka way down the evolutionary ladder of intelligence here... or qualified to make coffee for this group of geneticists).

Picture


PLoS Genet. 2017 Jul 24;13(7):e1006905. doi: 10.1371/journal.pgen.1006905. [Epub ahead of print]Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Luo X1, Rosenfeld JA1, Yamamoto S1,2, Harel T1,3, Zuo Z1, Hall M4, Wierenga K4, Pastore MT5, Bartholomew D5, Delgado MR6, Rotenberg J7, Lewis RA1,3,8,9, Emrick L1,8, Bacino CA1, Eldomery MK1,3, Coban Akdemir Z1,3, Xia F1, Yang Y1, Lalani SR1, Lotze T8, Lupski JR1,3,8,9, Lee B1, Bellen HJ1,2,10, Wangler MF1,2; Members of the UDNAuthor information

1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
2 Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.
3 Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
4 University of Oklahoma Health Sciences Center, Oklahoma City, OK.
5 Nationwide Children's Hospital & The Ohio State University, Columbus, OH.
6 Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center andTexas Scottish Rite Hospital, Dallas, TX.
7 Houston Specialty Clinic, Houston, TX.
8 Department of Pediatrics, Baylor College of Medicine, Houston, TX.
9 Texas Children's Hospital, Houston, TX.
10 Howard Hughes Medical Institute, Houston TX.

​Abstract:

Dominant mutations in CACNA1A, encoding the α-1A subunit of the neuronal P/Q type voltage-dependent Ca2+ channel, can cause diverse neurological phenotypes.

Rare cases of markedly severe early onset developmental delay and congenital ataxia can be due to de novo CACNA1A missense alleles, with variants affecting the S4 transmembrane segments of the channel, some of which are reported to be loss-of-function.

Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p.R1664Q variant, in four individuals with global developmental delay, hypotonia, and ophthalmologic abnormalities.

Given the severity of these phenotypes we explored their functional impact in Drosophila. We previously generated null and partial loss-of-function alleles of cac, the homolog of CACNA1A in Drosophila. Here, we created transgenic wild type and mutant genomic rescue constructs with the two noted conserved point mutations.

The p.R1673P mutant failed to rescue cac lethality, displayed a gain-of-function phenotype in electroretinograms (ERG) recorded from mutant clones, and evolved a neurodegenerative phenotype in aging flies, based on ERGs and transmission electron microscopy.

In contrast, the p.R1664Q variant exhibited loss of function and failed to develop a neurodegenerative phenotype.

​Hence, the novel R1673P allele produces neurodegenerative phenotypes in flies and human, likely due to a toxic gain of function
.


Full article is here.

Saturday, July 08, 2017

Severe Sleep Apnea & Retinal Nerve Fiber Layer

In severe OSA the retinal nerve fiber layer had reduced thickness.- JR


 2016 Apr 18;16:40. doi: 10.1186/s12886-016-0216-2.

Assessment of the retinal nerve fiber layer in individuals with obstructive sleep apnea.

Abstract

BACKGROUND:

The effect of obstructive sleep apnea (OSA) syndrome in the peripapillary retinal nerve fiber layer (RNFL) thicknesses remains unclear. The purpose of this study was to assess RNFL measurements acquired using scanning laser polarimetry (SLP) and optical coherence tomography (OCT) in patients with OSA.

METHODS:

The sample of this cross-sectional study included 40 OSA patients and 45 age-matched controls, consecutively and prospectively selected. All participants underwent at least one reliable standard automated perimetry (SAP) test, while RNFL measurements were obtained using the SLP and OCT. The OSA group was divided into 3 sub-groups based on the apnea/hypopnea index (AHI): mild, moderate, or severe OSA. SAP, SLP, and OCT outcomes were compared between the control and OSA groups. The relationship between AHI and RNFL parameters was also evaluated.

RESULTS:

Age was not different between both groups. Mean deviation of SAP was -0.47 ± 0.9 dB and -1.43 ± 2.3 dB in the control and OSA groups, respectively (p = 0.01). RNFL thickness measured with OCT was similar between groups. OSA patients showed increased nerve fiber indicator (NFI; 20.9 ± 7.9 versus 16.42 ± 7.82; p = 0.01) and decreased superior average (59.74 ± 10.35 versus 63.73 ± 6.58; p = 0.03) obtained with SLP compared with healthy individuals. In the total sample, NFI and AHI were moderately correlated (r = 0.358; p = 0.001). In severe OSA subjects (n = 22), NFI and AHI had a Spearman correlation coefficient of 0.44 (p = 0.04).

CONCLUSION:

RNFL thickness measured with OCT did not differ significantly between groups. Severe OSA was related to a reduction of the RNFL thickness assessed by SLP.

KEYWORDS:

Obstructive sleep apnea; Optic nerve head; Optical coherence tomography; Retinal nerve fiber layer; Scanning laser polarimetry
PMID:
 
27090783
 
PMCID:
 
PMC4835866
 
DOI:
 
10.1186/s12886-016-0216-2
[Indexed for MEDLINE] 
Free PMC Article

Sleep Apnea and the Retina

Retinal blood vessel abnormalities noted in sleep apnea. Another good reason to seek treatment. - JR

 2017 Apr 5;130(7):805-810.

Retinal Vascular Morphological Changes in Patients with Extremely Severe Obstructive Sleep Apnea Syndrome.

Wang XY1Wang S2Liu X3Ding X1Li M2Han DM1.

Abstract

BACKGROUND:

Obstructive sleep apnea syndrome (OSAS) has been shown to generate hypertension and endothelial dysfunction. Retinal vessel is the only vessel that can be observed directly and noninvasively; retinal vascular abnormalities can serve as a predictive marker for the occurrence, clinical course, and prognosis of cardiovascular and cerebrovascular diseases. The objective of this study was to identify the effect of OSAS severity on the morphological changes of retinal vessels.

METHODS:

Adult patients complained of snoring were included in this study. The patients' general information, polysomnography, and fundus photography parameters including central retinal artery equivalent (CRAE), central retinal vein equivalent (CRVE), and arteriole-to-venule ratio (AVR) were collected. Patients were divided into four groups according to their apnea-hypopnea index (AHI) results: Group I, AHI ≤5/h; Group II, 5/h < AHI ≤30/h; Group III, 30/h < AHI ≤60/h; and Group IV, AHI> 60/h.

RESULTS:

A total of 133 patients were included in this study with 111 males (83.5%) and 22 females (16.5%). Mean age was 41.6 ± 9.9 years, and the mean body mass index was 28.1 ± 4.0 kg/m2. AHI ranged between 0 and 130.8/h with a mean of 39.1 ± 30.7/h. There were 24, 34, 35, and 40 patients in Group I, Group II, Group III, and Group IV, respectively. Significant differences were found for AHI (F = 388.368, P< 0.001), minimal pulse oxygen saturation (F = 91.902, P< 0.001), and arousal index (F = 31.014, P< 0.001) among four groups; no significant differences were found for CRAE (F = 0.460, P = 0.599) and CRVE (F = 0.404, P = 0.586) among groups; there were significant differences for AVR between Group I and Group IV (63.6 ± 5.1% vs. 67.2 ± 5.5%, P = 0.010) Group II and Group IV (64.5 ± 6.0% vs. 67.2 ± 5.5%, P = 0.030), and Group III and Group IV (64.7 ± 4.1% vs. 67.2 ± 5.5%, P = 0.043). A main group-by-AHI effect was found on the AVR: patients with higher AHI showed higher AVR results (r = 0.225, P = 0.009). Multivariate logistic regression analysis was used for multi-variable factors. A group-by-age effect was found on the AVR: younger patients showed higher AVR results (β = -0.001, P = 0.020).

CONCLUSIONS:

This study indicated that increased AVR of retinal vessel can be observed in extremely severe OSAS patients. For patients with OSAS, c.
PMID:
 
28345544
 
PMCID:
 
PMC5381314
 
DOI:
 
10.4103/0366-6999.202728
[Indexed for MEDLINE] 
Free PMC Article