Latest news with #LOPD
Medscape
12 hours ago
- Health
- Medscape
Fast Five Quiz: Late-Onset Pompe Disease
Multiple genetic variants have been associated with LOPD. However, the c.-32-13T>G splice site variant is found in up to 90% of adults and 50% of pediatric patients. Patients with LOPD often have compound heterozygous genotypes, with one allele carrying the common c.-32-13T>G splice-site variant and the other harboring a more deleterious GAA mutation (eg, nonsense, frameshift, or large deletion). Other variants— such as and c.1935C>A — are more commonly seen in infantile forms of Pompe disease. Learn more about the pathophysiology of LOPD. Diagnosis of LOPD typically follows a two-step approach: first, measuring GAA enzyme activity (often via dried blood spot assay) followed by confirmatory molecular genetic testing to identify pathogenic GAA variants. Although once considered a first-line diagnostic tool for LOPD, muscle biopsy is no longer preferred due to its invasive nature and the non-specificity of histologic findings. Muscle biopsy may still be considered in rare, ambiguous cases when enzyme and genetic testing are inconclusive or conflicting. CK levels might be elevated in some patients but are nonspecific and primarily serve to raise clinical suspicion. Learn more about the workup for LOPD. Enzyme replacement therapy (ERT) has significantly changed the natural history of the disease by improving survival and stabilizing motor and respiratory function. However, key limitations in skeletal muscle uptake and variability in clinical response remain. This is due to low expression of the mannose-6-phosphate receptor in muscle tissue, which hampers enzyme internalization. As a result, patients might experience a limited or plateaued response. Newer approaches, including modified ERT and gene therapy, are being developed to address this issue. High toxicity to cardiac muscle, uniform patient response, and development of cardiac hypertrophy have not been reported as key limitations. Learn more about treatment options for LOPD. NBS programs have reshaped the understanding of Pompe disease, particularly LOPD. A significant proportion of screen-positive newborns harbor genetic variants associated with LOPD, including pseudo deficiency alleles and variants of uncertain significance. These individuals are often asymptomatic at birth and might not develop symptoms for years, if at all. This has raised important clinical questions around monitoring, counseling, and when (or whether) to initiate therapy; expanded screening has also revealed that the true prevalence of LOPD might be higher than historical estimates suggested. Learn more about the management of LOPD. Editor's Note: This article was created using several editorial tools, including generative AI models, as part of the process. Human review and editing of this content were performed prior to publication. Lead image: UCSF/Science Source
Yahoo
15-04-2025
- Politics
- Yahoo
Public defenders look back on 2025 legislative session
Chief Public Defender Bennet Baur. (Photo courtesy of the Law Offices of the Public Defender) Philip Larragoite, chief of staff for the New Mexico Legislature's Senate Judiciary Committee, says his measure of a legislative session's success isn't so much the bills lawmakers passed but, rather, the ones they did not. 'You can't hear 'em all, and the Judiciary Committee in the Senate was pretty rigorous about what it hears and what it acts on,' Larragoite told the state Public Defender Commission on Friday during its regular meeting in Albuquerque — its first since the session ended on March 22. 'Our Constitution is hard-wired — it's supposed to be hard to adopt legislation, hard to pass bills.' The commission oversees the Law Offices of the Public Defender, the independent state agency that employs public defenders who represent anyone charged with a crime in New Mexico. Larragoite, who is also LOPD's deputy chief of policy and statewide offices, noted that he has participated in more than 70 legislative sessions, the earliest in 1961 as a page for Jack Campbell, who was House Speaker at the time. Appellate Defender Kim Chavez Cook, who also works as LOPD's policy advocate during legislation sessions, agreed that it is important to note the bills that did not pass. She highlighted two examples of bills that were 'priorities for us to stop': House Bill 204, a proposal that comes up every year to try to remove defense pre-trial interviews from certain cases; and House Bill 190, which would have given alleged victims in criminal cases the right to be a litigant in those cases. Chavez Cook said LOPD had 'serious due process concerns' with HB204, and put a lot of time and energy into discussions about it. HB190 raised 'some serious separation of powers and other related concerns,' she said. Neither bill received a single vote in committee this year. 'We'll keep doing that year after year, many of these things will come back again,' Chavez Cook said. Policy aside, Chief Public Defender Bennet Baur told the Commission on Friday he was disappointed by the budget outcomes. During the recent session, his agency asked lawmakers for a nearly 13% increase in its annual budget but only received a 4.1% increase. Lawmakers did not give LOPD any money for additional full-time staff positions, Baur said, but they did give the agency $450,000 to spend over the next two years for recruitment and retention. Hundreds of additional public defenders would be needed to properly handle all of the cases coming through the state's criminal legal system, and there is a longstanding disparity of resources between public defenders and their opponents in court, district attorneys. The American Bar Association found in 2022 that New Mexico needs at least 602 full-time attorneys and is currently only meeting 33% of clients who need a legal defense. Baur said many lawmakers were concerned about the economy in the U.S. and the state as they considered the budget, and are probably even more concerned about it now than they were during the session. In the last four years, he said, lawmakers have funded 54 new staff positions. LOPD has an overall vacancy rate of 11%, better than most state agencies, he said. That rate is higher for attorney positions, at 16.8%, he said. Many public defenders aren't actually full-time staff employed by LOPD, but are contractors who are paid a flat fee for taking on cases rather than an hourly rate. For example, when a contractor takes on a first-degree murder case, the state pays them a base rate of $5,400. For the whole case. That means, on average, that attorney is making $13.81 per hour representing their client, according to the ABA's study. In some jurisdictions, paying a public defender a flat fee is outlawed, said Commissioner Jacqueline Flores, a former Second Judicial District Court judge. Baur said lawmakers didn't give LOPD money to launch a pilot project for paying contract attorneys an hourly rate. But he said he's determined to still try to do it by 'rearranging money' within the agency's existing budget. 'Those of you that know the budget process know that you never get what you ask for,' Baur said. 'But if you don't ask for it, then you don't get it.' SUPPORT: YOU MAKE OUR WORK POSSIBLE
Yahoo
31-01-2025
- Yahoo
Albuquerque teens arrested after carjacking attempt erupts into deadly shootout
Jan. 30—Albuquerque police say a carjacking attempt by a group of teens erupted in gunfire and left a 14-year-old boy dead and a woman injured early Wednesday morning. Jeriah Salas, 15, is charged with attempted armed robbery, aggravated battery and aggravated assault with a deadly weapon, shooting at a motor vehicle and conspiracy in the case. Salas has been booked into the juvenile detention center. The Law Offices of the Public Defender said its attorneys were "just beginning to speak with our clients and find appropriate representation for them." "This is a heartbreaking case for everyone involved. Still, we should not judge these kids as throwaways or lost causes," LOPD District Defender Dennica Torres said in a statement. "We don't know what brought them into this situation." The Albuquerque Police Department said Salas shot a woman and her husband returned fire, fatally shooting Salas' accomplice, Alonzo Sanderson, 14. Police said seven youths between the ages of 12 and 17 were involved in the robbery attempt and one of them, a 15-year-old girl, was grazed by a bullet. APD spokesman Gilbert Gallegos said police arrested all seven of the youths, including Salas, and the other six are charged with attempted armed robbery with a deadly weapon and conspiracy. "Detectives are investigating the death as a justifiable homicide since the husband of the victim was defending his wife and himself during an armed robbery," Gallegos said. "The wife, an adult female in her 30s, was treated for two gunshot wounds and released (Wednesday) from the hospital." Officers responded around 12:20 a.m. to reports of a shooting at an apartment complex along Copper, just east of Chelwood Park, according to a criminal complaint filed in Metropolitan court. Police found Sanderson fatally shot near a white Chevy Malibu and he died at a hospital. Police said a teen with Sanderson told detectives someone in a Jeep shot at them in the parking lot of The Ridge apartments, up the block at Copper and Tramway. At that scene, officers found two guns, bullet casings, broken glass and blood but no suspects or victims. A man called 911 to report his wife had been shot as they sat in a Jeep outside the complex and he had driven her to a hospital, according to the complaint. Another 911 call came in from a woman who said her 15-year-old daughter, who had "an apparent gunshot wound, and her friends showed up to the family's North Valley home but left before police arrived. Police said at the hospital a man told them he and his wife were parked outside a friend's apartment when two teens, one holding a gun in each hand, tried to carjack them. The man said one teen shot once into the Jeep before he fired back six times with his own gun. The man told police a teenage girl then jumped into the Jeep and began hitting him and he struck her with his gun, which had been fired empty, the complaint states. He said he then drove off and took his wife to the hospital. Police said two of the teens found with Sanderson told detectives the group was "cruising around" in the Malibu when they pulled into the complex. The teens said when they passed the Jeep that Sanderson suggested they rob the people inside. The teens told police Sanderson and Salas got out and pointed guns at the people inside the Jeep before gunfire rang out, according to the complaint. The teens said they put a wounded Sanderson in the Malibu and drove down the street to ask one of their mothers for gas money to get him to the hospital. Police said one of the teens told them that, as they waited to see if they could get gas money, the group "conspired to say they were just standing in the parking lot, and the blue Jeep approached them and started shooting at the group."
