Monday, September 6, 2021

Separation of craniopagus twins in Israel

For the first time in Israel, twins conjoined at the head were separated successfully. 

The operation, conducted by Soroka Medical Center in the southern city of Be’er Sheba, was a huge success. Doctors expect the girls, who were born last year in August, will live completely normal lives. 

“They are breathing and eating on their own,” Eldad Silberstein, head of the hospital’s plastic surgery department, told Israel’s Channel 12 news. 

“This was a rare and complex surgery that has been conducted only 20 times worldwide and now, for the first time, in Israel,” said Mickey Gideon, Soroka’s chief pediatric neurosurgeon. 

The 12-hour procedure, with the assistance of dozens of experts from Israel and abroad, involved cranial reconstruction and scalp grafts. 

Dr. Isaac Lazar, director of the Pediatric Intensive Care Unit at Soroka, described to Times of Israel the moment on Sunday when the girls looked at each other for the first time and the “unbelievable joy” felt by the parents. 

“When the nurses brought the babies together, newly separated, they looked at each other, made noises, and gently touched each other — it was beautiful,” Lazar told Times of Israel in an interview. “You could see the communication between them, and it was just so special.” 

“Any wrong decision could have been the difference between life and death,” Lazar said. “It was so delicate, as the surgery was performed between major blood vessels in the babies’ heads. We all knew that any bleed could have catastrophic consequences.” 

The operation was “complicated beyond anything one could imagine,” he added. “The babies were connected by the back of their heads in an area where there was no skin and no skull. We had to take action to make them grow more skin.” 

“Because the babies couldn’t move their heads for the first 12 months of their lives, there’s a physical handicap, but with the right rehabilitation for their physical and cognitive development, we expect them to catch up with their milestones,” the doctor explained. 

“One of the reasons for doing this now, as early as possible, is to allow normal development, and our hope is that this is now very likely.”

Friday, September 3, 2021

Alta Fixsler

Every life is precious, no matter what one’s circumstances!

Little Alta Fixsler was born eight weeks prematurely in Royal Manchester Children’s Hospital.  A traumatic birth deprived Alta of oxygen for twenty-five long minutes causing severe brain injury and no expectation for her to live more than a day.  But with HaShem’s help coupled with the loving embrace of her parents and Modern Medicine’s gift of the ventilator, this beloved Jewish daughter survived her first harrowing days of life.  Despite Alta’s strides in weaning off ventilation and transitioning to a lower level of respiratory support or that plans were being formulated to bring her home, someone at the hospital made a series of unilateral decisions that resulted in Alta having to go back on ventilation.   After that it was only a matter of time before pressure began to mount on her parents to withdraw life support under the guise of concern for her pain and no promise of recovery or a normal life.  When Alta’s parents refused to consent, Manchester University Foundation Trust (NHS) went to Court against them and were granted guardianship and the right to withdraw her life support, r”l.

In conjunction with efforts being made on Alta’s behalf, Crown Heights Women for the Safety and Integrity of Israel and its many members around the world have sent the below appeal to British Prime Minister Boris Johnson.


To the Rt Hon Prime Minister Boris Johnson,

We were duly impressed with the United Kingdom’s humanitarian commitment pledged by yourself and fellow parliamentarians on August 18th to rescue tens of thousands of Afghanis from certain persecution and death as the Taliban take over in the wake of the US withdrawal from Afghanistan.

At the same time, however, we cannot understand why the same kind of compassion and political will has not been shown towards Alta Fixsler.

Across the globe people of goodwill from all walks of life and religions are praying for this special little girl to be given a chance.

The Lubavitcher Rebbe, the greatest lover of humanity in our time, repeatedly emphasized that acts of goodness and kindness bring light and peace to the entire world.

And so, Mr. Prime Minister, we plead with you to immediately intercede on Alta’s behalf to find a way she can leave the UK either to the US or to her home country in the State of Israel.

As we’ve no doubt you are already familiar with the particulars of Alta’s birth and her medical issues as well as the High Court’s decision, we only ask that you to consider the following three key points.

To be clear, we respect the strict separation of powers that make up the UK government and are not asking you to override in any way the Court’s ruling.

Alta and the Fixslers are Israeli citizens.

Mr. Prime Minister, Alta and her parents are Israeli citizens.  Avraham Fixsler is also an American citizen and Mrs. Fixsler additionally holds Hungarian citizenship.  The Fixslers always intended to return to their home country and have made no application for British citizenship. 

As such there can be no justification for expropriating the Fixsler’s parental rights – who are neither British citizens nor have they committed any crime on UK soil – or Alta’s right to live, simply because she sadly suffered brain injuries at birth.

Palliative care is a horribly painful way to end life.

Benign sounding terms like palliative and hospice care disguise the true ordeal a person endures when life support is taken away.

Here is what happens when ventilation is withdrawn:  First there is a physically painful struggle by the patient to breathe accompanied by panic, fear, and agitation – especially when the fight to live is deliberately being suppressed.   Saliva and secretions begin pooling in the lungs and the sounds of death rattle in the chest.

In order to “calm and comfort” the patient during this “merciful” form of legalized murder, a powerful mix of opiates, barbiturates or analgesics must be given to keep the person sedated until he or she succumbs and dies.

As much as an adult in this state might be able to reconcile their final moments – if this has been a deliberate decision to do so [and one we do not agree with] – for anyone else, especially a child, this can only be terrifying!

How can this possibly be in Alta’s best interests?!

Yet NHS has taken it even one step further.  The Court’s ruling gave room for Alta to pass away in the comfort of her parents’ home in Manchester surrounded by her loving family.

Instead, NHS unilaterally decided that Alta may only die in a hospice or in the hospital which they themselves concede is a cold, windowless environment.

Surely Mr. Prime Minister you realize the above scenarios are far more “painful” and distressing than anything that might occur during a responsible transport with appropriate pain control.

Alta does not have to die

No doubt Mr. Prime Minister you are aware that medical facilities in Israel are ready to admit Alta as a patient under their care.  Surely, there is room to reevaluate this option.

But if not, we beg you to find a way Alta can be transferred to the US where Senator Charles Shumer has procured a visa for Alta to enter the country for care and where there is widespread bi-partisan support in Congress endorsing her move.

A highly qualified medical transport is already in place to transfer Alta at absolutely no cost to NHS or the UK.

Mr. Prime Minister, Rosh HaShana, the Jewish New Year, is fast approaching.  This is the birthday of Mankind when Adam and Eve were created and judged.   The fate of Alta should be emblematic of Humanity’s appreciation for the preciousness of every life, no matter what one’s circumstances. 


Thursday, September 2, 2021

Primary amebic meningoencephalitis 5

A California boy who was on life support after he contracted a brain-eating amoeba likely while swimming in a lake has died, his family recently told news outlets. David Pruitt, 7, had been flown to UC Davis Medical Center on July 30, according to the family’s fundraising page. 

About a week later, the boy died. His aunt, Crystal Hayley, said he was diagnosed with primary amebic meningoencephalitis (PAM), a rare, devastating infection of the brain. The Associated Press reported that earlier this month, health officials in Tehama County said that a child under 10 was likely infected in a Tehama County lake, but did not reveal exactly where or the child’s age. 

According to the Tehama County Health Services Agency, there have only been 10 PAM cases reported in California since 1971. 

PAM is caused by Naegleria fowleri, also known as a brain-eating amoeba, which is found in warm freshwater and soil. It usually infects people when contaminated water enters the body through the nose, and travels to the brain where it causes PAM. Usually, most PAM cases are fatal, according to the Centers for Disease Control and Prevention (CDC).

It was not clear exactly when David had gone swimming, as symptoms of PAM typically begin one to nine days after. Death typically occurs between one and 18 days after symptoms begin. The CDC notes that PAM is difficult to detect due to rapid progression of illness.

Monday, August 30, 2021

Association of Tourette syndrome and chronic tic disorder with cervical spine disorders

Isung J, Isomura K, Larsson H, Sidorchuk A, Fernández de la Cruz L, Mataix-Cols D. Association of Tourette Syndrome and Chronic Tic Disorder With Cervical Spine Disorders and Related Neurological Complications. JAMA Neurol. 2021 Aug 23. doi: 10.1001/jamaneurol.2021.2798. Epub ahead of print. PMID: 34424277.


Importance: Severe forms of Tourette syndrome or chronic tic disorder (TS/CTD) may involve repeated head jerking. Isolated case reports have described a spectrum of severe neck disorders in individuals with TS/CTD. However, the nature and prevalence of cervical spine disorders in TS/CTD are unknown.

Objective: To establish if TS/CTD are associated with an increased risk of cervical spine disorders and related neurological complications compared with individuals from the general population.

Design, setting, and participants: All individuals born from 1973 to 2013 and living in Sweden between 1997 and 2013 were identified. Individuals with a record of TS/CTD diagnosed in specialist settings were matched on age, sex, and county of birth with 10 unexposed individuals randomly selected from the general population. Cox proportional hazards regression models were used to estimate the risk of vascular and nonvascular cervical spine disorders among exposed individuals, compared with unexposed individuals. Models were adjusted for other known causes of cervical spine injury. Data were analyzed from March 19 to May 16, 2021.

Exposures: International Statistical Classification of Diseases and Related Health Problems, Tenth Revision diagnoses of TS/CTD in the Swedish National Patient Register.

Main outcomes and measures: Records of cervical vascular disorders (ie, aneurysm, cerebral infarction, transitory cerebral ischemia) and cervical nonvascular disorders (ie, spondylosis, cervical disc disorders, fractures of the cervical spine, cervicalgia) and cervical surgeries. Covariates included rheumatic disorders, traffic injuries, fall- or sport-related injuries, and attention-deficit/hyperactivity disorder comorbidity.

Results: A total of 6791 individuals with TS/CTD were identified (5238 [77.1%] were male; median [interquartile] age at first diagnosis, 15.6 [11.4-23.7] years) and matched to 67 910 unexposed individuals. Exposed individuals had a 39% increased risk of any cervical spine disorder (adjusted hazard ratio, 1.39; 95% CI, 1.22-1.59). Adjusted hazard ratios for cervical vascular and nonvascular disorders were 1.57 (95% CI, 1.16-2.13) and 1.38 (95% CI, 1.19-1.60), respectively. Risks were similar among men and women.

Conclusions and relevance: Individuals with severe TS/CTD are at increased risk of cervical spine disorders. These outcomes are relatively rare but may lead to persistent disability in some individuals and thus require close monitoring to facilitate early interventions.

Courtesy of:

NGLY1 mutation

 No boy should have a last stretch of days. But Bertrand Might lived his as well as any boy could: There was a “Star Trek” marathon with his brother and sister, sunrises on the lakeshore, and visits with family in parks, beaches, and backyards — anywhere they could safely gather during the pandemic.

His father, Matt Might, said it ended up being an unplanned farewell for 12-year-old Bertrand, whose health had always been precarious. He was the first person in the world diagnosed with a particular neurodegenerative condition that causes developmental delays, seizure-like activity in the brain, and frequent infections.

One of those infections, unrelated to Covid-19, led to his death on Oct. 23 after he spiraled into septic shock. But if his passing came too soon, it did not come before his life led to crucial discoveries for dozens of children with his condition.

“What he did with NGLY1 alone was pretty powerful,” said Matt Might, referring to the gene involved in his son’s disease. After years of research, it was the discovery of a double mutation in Bertrand’s NGLY1 gene, and the constellation of symptoms linked to it, that explained the cause of the illness and built a worldwide community around it.

“There are 70 families on the patient mailing list right now for a disease that eight years ago didn’t exist,” Might said.

Bertrand also inspired a quest by his father, an artificial intelligence expert and computer programmer, to employ precision medicine on a wider scale, using genetic data to help tailor treatments to patients with rare and hard-to-treat diseases like his son’s.

Might began that work initially to help Bertrand, but it led to a stint on President Obama’s precision medicine initiative and the creation of a new precision medicine institute (PMI) he now leads at the University of Alabama, Birmingham.

“PMI was founded on this algorithm that Bertrand taught me,” Might said. “How do you try to therapeutically modulate a specific genetic target? There is a central game plan we use every time somebody comes in.”

Might and his team examine what gene is involved in a person’s condition and whether it is under-reactive, over-reactive, toxic, or missing altogether. The answers to those questions form the basis for a scientific process that often gives patients hope when conventional medicine has failed to provide an accurate diagnosis or effective treatments. A permanent endowment has been established at UAB in Bertrand’s name to fund advanced diagnostics and research to identify novel therapies for patients with no other options.

In Bertrand’s case, the double mutation in NGLY1 left him without an enzyme that facilitates the recycling of cellular waste. It severely limited his mobility, requiring him to use a wheelchair, and also impaired his liver function and ability to communicate.

Still, Bertrand drove the science of his condition while enduring countless hospitalizations, often due to infections that made it difficult to breathe.

Throughout his life, he developed a love for dolphins and an aquarium his parents set up in his bedroom. He spent hours learning words and reading with his father and mother, Cristina, and he bonded with his younger brother and sister over movies and video games.

“I’m proud of Bertrand in multiple ways,” Might said. “I would often tell people to imagine a being created without the ability to even feel malice. He was just a pure being, and I loved that about him.”
In recent years, the science that led to his diagnosis has also begun to unravel the biology of NGLY1 deficiency and its impact on patients. A project sponsored by the National Institutes of Health is underway to screen hundreds of thousands of molecules for therapeutic potential against the illness, while Might has used computational methods to identify treatments that showed efficacy in animal subjects.

On Bertrand’s last day in the hospital, as his condition continued to deteriorate, his father read him an email from the father of another patient with his illness. It said that the Food and Drug Administration seemed pleased with pre-clinical studies of a gene therapy for NGLY1 and outlined a series of steps toward a clinical trial.

“It was so meaningful to know the community that Bertrand formed has spawned efforts well beyond my own,” Might said. “And in the end, he died in a world where the hope of a cure existed.”

Might and his wife, Cristina, celebrated the birth of their first child on Dec. 9, 2007. They named him Bertrand, in honor of British mathematician Bertrand Russell. But celebration soon turned to concern, as it quickly became apparent that something was wrong with the infant...

“It turns out he was the first human ever diagnosed with missing this gene and to have it linked to a disease,” Might says. “Our son was literally patient zero. Then the question became, what do we do with that information? We now know the exact molecular cause of this disease. Can we treat it?”
The Mights then needed to better understand the constellation of disorders caused by the genetic mutation and pathways to potential therapies. To achieve that, they needed to attract the attention of researchers, pharmaceutical companies, and the FDA. To achieve that, they needed to find more people with this ultra-rare disease.

Years earlier, Might had created a viral phenomenon with an online blog post called “The Illustrated Guide to a Ph.D.,” which was eventually translated into dozens of languages. He took lessons he had learned about viral marketing, search engine optimization, and leveraging social media and applied them to his search for more people like Bertrand.

In May 2012, he posted an essay to his personal website titled “Hunting Down My Son’s Killer.” The post was shared on social media and Reddit within hours. The next day, Might was contacted by the editor of Gizmodo, an influential tech blog, who asked for permission to republish it. Within 24 hours, the post had gone viral.

The exposure worked. Over the next few months, Might was contacted by other families struggling with the NGLY1 deficiency and researchers volunteering to help. Further tests revealed that without a functioning NGLY1 gene, Bertrand was deficient in a sugar called N-acetylglucosamine, which is a derivative of glucose. Far from being a rare resource, N-acetylglucosamine can be purchased on Amazon. Might ordered some and, after taking it himself with no ill effects, he began giving it to his son.

A mere three days later, Might walked into his son’s room and witnessed an incredible sight: Bertrand was crying. Not yelling—crying, with actual tears rolling down his cheeks.

“It was amazing to walk in at that moment and see him crying,” Might says. “They may have just been tears, but they were an ocean of science for the disease. They unlocked so much about this disorder.”


Tuesday, August 24, 2021

Prenatal caffeine exposure: association with neurodevelopmental outcomes

Zhang R, Manza P, Volkow ND. Prenatal caffeine exposure: association with neurodevelopmental outcomes in 9- to 11-year-old children. J Child Psychol Psychiatry. 2021 Jul 27. doi: 10.1111/jcpp.13495. Epub ahead of print. PMID: 34318489.


Background: Despite the widespread use of caffeine including consumption during prenancy, the effect of prenatal caffeine exposure on child brain development and behavior is unclear. 

Methods: To address this, we used data from the Adolescent Brain and Cognitive Development Study (n = 11,875 children aged 9-11 years from 22 sites across the United States). We explored the associations between prenatal caffeine exposure and various developmental outcomes including birth outcomes, physical health, behavior problems, cognition, substance use and brain structure in children, and evaluated dose effects.                                          

Results: Among 9,978 children (4,745 females) who had valid data for prenatal caffeine exposure and whose mothers did not use drugs of abuse after knowing of pregnancy, 4,170 (41.79%) had no prenatal caffeine exposure, 2,292 (22.97%) had daily, 1,933 (19.37%) had weekly, and 1,583 (15.86%) had less than weekly exposures. Prenatal caffeine exposure including the widely recommended 'safe' dose was associated with greater externalizing problems, whereas greater BMI and soda consumption were only observed in children with high dose exposures (3+ per day). Notably, the effect size for association of externalizing problems with prenatal caffeine exposure was comparable with that reported for prenatal alcohol (The American Journal of Psychiatry, 177, 2020 and 1060) and prenatal cannabis (JAMA Psychiatry, 78, 2020 and 64) exposures from previous ABCD publications. Additionally, prenatal caffeine exposure was associated with brain structural changes that included greater posterior and lower frontal cortical thickness and altered parietooccipital sulcal depth. 

Conclusions: The recommended 'safe' dose of caffeine during pregnancy should be carefully studied to assess whether the behavioral and brain correlates observed here are clinically relevant and determine whether it needs adjustment. Because of the high prevalence of caffeine use in the general population, studies on prenatal exposure to drugs of abuse should include prenatal caffeine use as a covariate.

Courtesy of:

Sleep problems in children with autism spectrum disorder

Chen H, Yang T, Chen J, Chen L, Dai Y, Zhang J, Li L, Jia F, Wu L, Hao Y, Ke X, Yi M, Hong Q, Chen J, Fang S, Wang Y, Wang Q, Jin C, Li T. Sleep problems in children with autism spectrum disorder: a multicenter survey. BMC Psychiatry. 2021 Aug 16;21(1):406. doi: 10.1186/s12888-021-03405-w. PMID: 34399715; PMCID: PMC8365936.


Background: High prevalence of sleep problems have been reported in children with Autism Spectrum Disorder (ASD). This study aims to investigate the sleep conditions of ASD children in China, and explore the relationship between the common sleep problems and core symptoms and developmental levels.

Methods: Using a cross-sectional design, we included 2 to 7-year-old children from 13 cities in China: 1310 with ASD and 1158 with typically-developing (TD) children. The neurodevelopmental level was evaluated with the revised Children Neuropsychological and Behavior Scale (CNBS-R2016). ASD were diagnosed with DSM-5 and Child Autism Rating Scale (CARS). the Social Responsiveness Scale (SRS), the Autism Behavior Checklist (ABC) and the communication warning behavior sub-scale in CNBS-R2016 valued autism behaviors. The children' s sleep habits questionnaire (CSHQ) assessed sleep conditions.

Results: The prevalence of sleep disorders in ASD children was significantly higher than that in TD (67.4% vs. 51%, p < 0.01), and among them the four dimensions with the highest prevalence of sleep problems were bedtime resistance (25.6%), sleep anxiety (22.7%), sleep onset delay (17.9%) and daytime sleepiness (14.7%). ASD children with sleep onset delay or sleep anxiety had higher ABC, SRS scores and higher scores on communication warning behavior with sleep anxiety, with daytime sleepiness had higher ABC, SRS and CARS scores, and with bedtime resistance had higher SRS total scores. Differences in the neurodevelopmental level were not significant.

Conclusion: Children with ASD have a higher prevalence of sleep problems. Bedtime resistance, anxiety, sleep onset delay and daytime sleepiness may be related to the core symptoms, but not be related to the developmental level in ASD children. In the clinic, sleep assessment should be included in the routine of ASD visits, and during the intervention, sleep hygiene education is as important as the treatment of biological factors.

Courtesy of: