An Experimental Procedure Could Help More Families Have Healthy Babies. But It ’s Not Allowed in the U.S.

When Noah Shulman was born a few days after Christmas 2016, his parents Kristelle and Evan had no reason to worry about him. The pregnancy went smoothly, and so did the birth. But within a few days of taking his first breath, Noah began to struggle. He wasn’t feeding, so he started losing weight. He was also lethargic. Several pediatricians reassured the Shulmans that they were probably just overly sensitive to Noah’s symptoms because Kristelle is a nurse and Evan is a physician assistant–a case of first-time-parent-white-coat syndrome. “They kind of dismissed us as neurotic parents,” says Evan. But when Noah strained to breathe, the alarmed Shulmans took him to the emergency room, and he spent the next few months in the hospital. After a harrowing month of medical emergencies that included seizures and a heart attack, the Shulmans learned that their son had a rare genetic disease that affected his mitochondria. About 1 in 4,000 people worldwide–20,000 in the U.S.–have mitochondrial diseases. Mitochondria are present in nearly every cell in the human body, and they provide energy for everything cells do, acting as the body’s molecular batteries. They also have their own DNA, and mutations can cause hearing loss, diabetes, muscle weakness, seizures and heart problems. There are no treatments for mitochondrial disorders, as it’s not yet possible to repair or alter the affected mitochondrial genes using gene therapy. Three m...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized fertility Research Source Type: news

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This study aimed to investigate whether this facilitation of the spinal motoneuron pool excitability by C-TMS is affected by cerebellar transcranial direct current stimulation (ctDCS) in a polarity-specific manner. Eleven healthy adults participated in this study. The H-reflex was measured from the right soleus muscle by electrical stimulation of the right tibial nerve. The conditioning TMS over the right cerebellum was delivered 110 ms before tibial nerve stimulation. The H-reflex ratio was calculated as conditioned/unconditioned H-reflex amplitude, and measured for pre- or post-anodal, cathodal, or sham right ctDC...
Source: Neuroscience Research - Category: Neuroscience Source Type: research
In this study, learning and memory were significantly decreased in ADC mice compared with those in WTC mice, whereas exercise improved learning and memory in APP/PS1 transgenic mice. Meanwhile, ADC mice displayed defective mitochondrial function as evidenced by a significant increase in swollen mitochondria and vacuoles, loss of mitochondrial cristae, and decreased ATP levels, as well as an imbalance in mitochondrial fusion and fission as evidenced by significantly increased Drp1 and Mff and decreased Mfn1, Mfn2, and Opa1 in the hippocampus. Interestingly, exercise mitigated mitochondrial dysfunction as evidenced by a sign...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
Publication date: Available online 19 February 2019Source: NeuronAuthor(s): Lucy A. McDermott, Greg A. Weir, Andreas C. Themistocleous, Andrew R. Segerdahl, Iulia Blesneac, Georgios Baskozos, Alex J. Clark, Val Millar, Liam J. Peck, Daniel Ebner, Irene Tracey, Jordi Serra, David L. BennettSummaryLoss-of-function mutations in NaV1.7 cause congenital insensitivity to pain (CIP); this voltage-gated sodium channel is therefore a key target for analgesic drug development. Utilizing a multi-modal approach, we investigated how NaV1.7 mutations lead to human pain insensitivity. Skin biopsy and microneurography revealed an absence ...
Source: Neuron - Category: Neuroscience Source Type: research
This study was based on a randomized controlled trial (NCT01998230). Patients with esophageal cancer who received McKeown MIE were randomly allocated into a group that started oral feeding on postoperative day (POD) 1 (EOF group) or a second group that received nil by mouth until 7 days after operation (late oral feeding [LOF] group). We chose 86 patients, 46 patients in the EOF group and 40 patients in the LOF group, in which to analyze inflammatory cytokine levels (interleukin [IL]-6, IL-8, tumor necrosis factor-a [TNF-α], and monocyte chemotactic protein-1 [MCP-1]).ResultsThe EOF and LOF groups exhibited similar p...
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
ConclusionsIt remains premature to declare superiority for uniportal VATS in lung cancer surgery. A higher level of evidence is needed, especially in investigating objective benefits and treatment efficacy of the single-incision approach.
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
This report discusses an infarct exclusion technique modified from the one described by Tirone David and associates. In this technique two separate pericardial patches are used. The first patch excludes the rupture. The second patch is sutured to the margins of the first patch and thus provides strength to the margins of the first patch. The repair is simple and durable and has reduced the incidence of residual ventricular septal defects and patch dehiscence.
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
Publication date: March 2019Source: The Annals of Thoracic Surgery, Volume 107, Issue 3Author(s): Nissim Ohana, Daniel Benharroch, Dimitri SheinisA young woman displayed a dural tear during thoracic spine surgery. The corpectomy was by anterior approach, after thoracotomy. The dural defect was plastered by a fatty flap and a pleural layer. One month later, she exhibited a right pleural effusion. No consensual intervention is available for this complication. This dural fistula was sealed by a triple patch comprising a flap of intercostal muscles. The incidence of dural leaks following an anterior thoracic spinal surger...
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
We report of a 20-year-old Marfan syndrome patient presenting with severe aortic regurgitation and severe heart failure. Aortic surgery with concurrent biventricular paracorporeal assist device implantation was performed to bridge the patient to heart transplantation, which was performed successfully 21 weeks after aortic surgery. While the optimal strategy for this situation has not been described, the approach applied here appears a valid option.
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
We describe 2 patients who required early intervention for severe foreshortening and incomplete expansion of the Thoraflex (Vascutek, Inchinnan, United Kingdom) stent graft.
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
Publication date: March 2019Source: The Annals of Thoracic Surgery, Volume 107, Issue 3Author(s): Guillaume Lebreton, Ciro Mastroianni, Julien Amour, Pascal LeprinceA 30-year-old patient had angiosarcoma of the right atrium with a negative outcome. The use of a SynCardia or Carmat was not possible due to invasion of the right atrium by the tumor, so we implanted two HeartWare ventricular assist devices (Medtronic, Minneapolis, MN) in a total artificial heart configuration using a technique not previously described. The surgical follow-up was simple, and the patient remained alive 30 days postoperatively. The technique...
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
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