MICHAEL C. BRAUN, M.D.

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This study looked at how much care infants with end-stage kidney disease (ESKD) use in hospitals and the costs associated with their treatment. Researchers found that these infants had long hospital stays of about 200 days and averaged five extra admissions and 15 outpatient visits by the age of two. The costs were significant, with an initial hospitalization costing about $1.2 million and an average of $467,607 for care after they left the hospital. Who this helps: This research benefits healthcare providers and policymakers by highlighting the high resource needs for infants with ESKD.

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Researchers studied how the shape of a fetus's bladder could predict survival outcomes for babies with severe lower urinary tract obstruction (LUTO). They found that 60% of babies with a rounded bladder survived for six months, while none of the babies with a floppy bladder survived. This is important because it shows that looking at bladder shape using ultrasound can help doctors predict outcomes and make better treatment decisions for fetuses with this condition. Who this helps: This helps doctors and parents of fetuses diagnosed with severe LUTO.

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This study examined the use of kidney ultrasounds in children newly diagnosed with nephrotic syndrome, a kidney condition often due to minimal change disease. Among 98 patients, 54% had an ultrasound, and 70% of those showed abnormal results, mostly increased kidney brightness and enlarged kidneys. However, the findings did not impact treatment decisions or correlate with how well patients responded to steroids, indicating that routine kidney ultrasounds may not be necessary at diagnosis. Who this helps: This benefits pediatricians and nephrologists by providing clarity on the necessity of ultrasounds for new patients with this condition.

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This study focused on the challenges facing pediatric nephrology, which is specialized kidney care for children, especially since many kids live far from these services. Researchers found that improving recruitment and retention of pediatric nephrologists is crucial to ensure better care, emphasizing the need for tailored training and fair reimbursement for the work these specialists do. For instance, they suggested using a new way to measure the diverse efforts of nephrologists beyond just the hours they bill for direct patient care to reflect their complete contributions. Who this helps: This benefits pediatric patients who need specialized kidney care and the doctors providing that care.

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This study looked at a 37-year-old man who was bitten by his pet monocled cobra, which led to serious health problems, including difficulty breathing that required a breathing machine. After receiving specific antivenom and antibiotics, he improved enough to leave the hospital, but returned soon after due to a severe infection in the bite area. Ultimately, he fully recovered after 36 days, highlighting the complexity of treating snake bites from non-native species and the importance of expert help in such cases. Who this helps: This helps patients who are bitten by non-native snakes and their medical teams.

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This study looked at children with ongoing instances of blood in their urine but no other signs of kidney disease. Researchers found that a significant number of these children, about 33%, had harmful genetic changes related to specific collagen genes that can affect kidney function, with similar findings in a larger group showing 27%. This is important because knowing about these genetic changes can lead to earlier diagnosis and management of kidney issues. Who this helps: This helps patients and their families by providing earlier insights into potential kidney problems.

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This study examined a fetus with enlarged, echogenic kidneys, a swollen abdomen, and low amniotic fluid. Researchers found that the fetus had two genetic changes: a new deletion and an inherited variant that together cause a condition known as autosomal recessive polycystic kidney disease (ARPKD). This is significant because it is the first documented case of ARPKD being identified through prenatal testing, allowing for earlier diagnosis and potential management options before birth. Who this helps: This benefits parents and healthcare providers by informing them about genetic conditions that can affect the fetus.

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This study looked at the outcomes of extracting upper second molars versus first premolars in patients with specific dental crowding issues. Researchers found that removing second molars led to better long-term alignment of third molars and less relapse in treatment results, while removing first premolars resulted in more tilting of the front teeth and worse alignment of the third molars. This is important because it helps dentists choose the most effective extraction method for patients with similar dental problems. Who this helps: Patients needing orthodontic treatment for dental crowding.

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This study focused on understanding severe kidney problems in unborn babies, known as CAKUT (congenital anomalies of the kidney and urinary tract), by examining 217 prenatal consultations at a specialized fetal center. The findings revealed that 35.8% of the pregnancies resulted in perinatal mortality, with only 64% of the surviving infants going home after birth. Priot to birth, prenatal genetic testing was not very helpful, while targeted testing after birth proved to be much more effective, identifying conditions in nearly 60% of the tested infants. Who this helps: This research benefits doctors, particularly pediatric nephrologists, and families facing complex kidney issues during pregnancy.

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This study examined a specific type of rat that is genetically prone to high blood pressure and kidney damage, known as the stroke-prone spontaneously hypertensive rat (SHR-A3). Researchers found that changing just a small part of its genes (only 0.16% of its DNA) from a strain that is resistant to kidney injury significantly reduced signs of kidney damage, such as lower levels of protein in urine, indicating that certain genes related to antibodies contribute to this damage. This matters because understanding how genetics impacts kidney health can lead to better treatments for high blood pressure and related kidney diseases. Who this helps: This benefits patients with high blood pressure and kidney disease.

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This study looked at a new treatment called VERVE-101, which uses a technique called CRISPR to permanently change DNA in order to reduce "bad" cholesterol levels. In experiments with monkeys, the treatment was found to lower a protein linked to cholesterol by 83% and the cholesterol levels themselves by 69% after about 476 days. The treatment was safe, showing only temporary mild side effects, and it did not affect reproductive cells in a way that would pass changes to future generations. Who this helps: This benefits patients with high cholesterol, especially those with genetic conditions like familial hypercholesterolemia.

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This study looked at how a specific type of kidney treatment, called continuous venovenous hemodiafiltration (CVVHDF), affects the levels of amino acids—essential nutrients needed for growth—in critically ill children with kidney issues. The researchers found that, on average, 14.6% of the protein given to these patients was lost during treatment, which means a significant amount of necessary nutrients were being removed from their bodies. This information is important because it shows that doctors need to give more protein to compensate for what is lost during the treatment to ensure these children get the nutrition they need. Who this helps: This study helps doctors who care for critically ill children with kidney problems.

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This study looked at boys diagnosed with systemic lupus erythematosus (SLE) that started in childhood and compared their kidney health with girls who have the same condition. The researchers found that 62% of boys and 57% of girls developed kidney issues, with 70% of boys showing improvement in kidney function after two years, but nearly half of them had relapses of kidney problems. Understanding these patterns is important because it highlights the similar challenges boys face with kidney health compared to girls while also showing that kidney issues in boys can come back frequently. Who this helps: This research benefits doctors and patients, particularly males diagnosed with childhood-onset lupus.

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This study looked at how well genetic tests match the results of kidney biopsies in patients at a kidney genetics clinic. They examined 28 patients and found that the tests agreed 71.4% of the time, but in some cases, like with certain syndromes, the biopsy results did not fully reflect the genetic findings. This is important because it shows that while genetic testing can provide a clear diagnosis for conditions like Alport Syndrome, there can still be unexpected results that complicate understanding kidney diseases. Who this helps: This information benefits patients and doctors by improving diagnostic accuracy in kidney conditions.

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This study looked at how genetic testing can help diagnose and manage kidney and urinary tract diseases in children at a specialized clinic. Out of 192 patients, the most common condition was cystic kidney disease, and genetic testing gave clear answers for 81 of the 158 tested, leading to important treatment changes for 20% of these children. This matters because accurate genetic diagnoses can improve treatment plans and also identify issues in family members who may not show symptoms. Who this helps: This helps children with kidney diseases and their families.

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This study looked at a new scoring system to identify which unborn babies with severe bladder issues are suitable for treatment before birth and to predict their chances of survival after birth. The research included 31 cases, showing that 64.5% (20 out of 31) survived for at least six months. The scoring system assigns points based on certain medical factors, and a score above 3 indicates a 0% chance of survival after birth, helping doctors guide families on treatment options and outcomes. Who this helps: This helps patients and their families by providing clearer information on treatment options and survival chances.

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This research paper studied how high blood pressure (hypertension) is linked to chronic kidney disease (CKD) by looking at genetic studies in humans and animals. The findings showed that genetic factors affecting kidney function, blood flow control, and immune response play a significant role in the risk of developing CKD when blood pressure is high. This is important because it highlights that as people age, the risk of developing CKD associated with hypertension increases, likely due to worsening genetic risks alongside normal aging. Who this helps: Patients with high blood pressure and chronic kidney disease.

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Researchers used a gene-editing tool called CRISPR to permanently disable a gene in monkeys' livers that controls cholesterol production, delivering it through tiny fat particles injected into the bloodstream. After a single injection, the monkeys' cholesterol dropped by about 60% and stayed low for at least 8 months without any additional treatment. This proves that gene editing could offer heart disease patients a one-time treatment instead of taking cholesterol drugs for life.

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This study reports on a 13-year-old girl from Saint Vincent and the Grenadines who has a rare kidney and liver condition caused by a new mutation in the DCDC2 gene. She shows symptoms similar to two previously documented cases of the same condition, including kidney disease and liver issues, but also has psychiatric symptoms that were not seen in the other patients. This research is important because it highlights the need to look for this genetic variant in similar populations, which could lead to better understanding and care for patients with this condition. Who this helps: This helps patients and doctors in at-risk populations.

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This study looked at intellectual disability linked to the DYRK1A gene and found that it is often associated with kidney and urinary tract problems. Specifically, they noted that around 40% of affected individuals had these congenital anomalies, which underscores the importance of checking for kidney issues in patients with this intellectual disability. Understanding this connection can lead to better care and management for these individuals. Who this helps: This helps patients with DYRK1A-related intellectual disability and their doctors.

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This study looked at a genetic variation in rats that causes high blood pressure and leads to kidney damage. Researchers found that the SHR-A3 rats, which have a specific genetic mutation affecting a protein called STIM1, showed major defects in immune cell function that led to more kidney injury. By restoring normal STIM1 function in a specialized group of these rats, kidney damage was significantly reduced—indicated by a drop in injury biomarkers and antibody levels. Who this helps: This benefits patients with hypertension and kidney disease, as understanding the genetic factors involved may lead to better treatments.

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This study looked at how genetic differences affect the risk of stroke in a specific type of rat that is prone to hypertension, called SHR-A3. Researchers found that altering a gene called Stim1 reduced the occurrence of stroke-related issues, such as brain swelling and smaller neurological deficits. Specifically, over half of the stroke-prone rats had serious brain damage, while those with the modified gene showed no major issues at all. Who this helps: This benefits patients at risk for stroke, particularly those with high blood pressure.

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This study looked at how temperature regulation is affected in mice that have a genetic mutation linked to amyotrophic lateral sclerosis (ALS). Researchers found that these mice showed a reduced ability to maintain their body temperature, especially during their active nighttime period, starting around 85 days old, which is just before they begin to show symptoms of ALS. This is important because it points to earlier physiological changes that could help in understanding and possibly treating the disease. Who this helps: This helps patients with ALS and their families by providing insights into early signs of the disease.

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This study looked at infants diagnosed before birth with lower urinary tract obstruction (LUTO) to see how severe their condition was and how many times they needed anesthesia in their first year of life. Researchers found that the severity of LUTO was linked to the number of anesthesia events; infants with the most severe cases (Stage III) experienced an average of 6.7 anesthesia encounters, compared to 1.6 for those with the least severe cases (Stage I). Additionally, babies born at a later gestational age had fewer anesthesia events. Understanding these patterns helps to better prepare and manage care for these infants after birth. Who this helps: This helps parents and healthcare providers caring for infants diagnosed with LUTO.

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This study looked at fetuses with a rare condition called lower urinary tract obstruction (LUTO) but with normal levels of amniotic fluid during the second trimester. Out of 18 fetuses studied, 17 (94.4%) survived the perinatal period, but 57.1% of the children later developed chronic kidney disease, and 28.6% progressed to end-stage renal disease by the age of two. This research is important because it highlights that while most of these fetuses can survive, they face significant long-term health risks regarding kidney function. Who this helps: This information benefits doctors and healthcare providers managing pregnancies affected by LUTO, as well as the families of affected children.

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This study looked at how a genetic change in the DYRK1A gene is linked to birth defects in the kidneys, urinary tract, and genitals. Researchers analyzed data from 19 patients and found that 11 of them had these kinds of defects. Additionally, experiments on frog embryos showed that when the DYRK1A gene was disrupted, it led to problems with kidney and urinary tract development, but these issues could be fixed by introducing a normal version of the gene. Who this helps: This research benefits patients with DYRK1A-related conditions and their doctors by highlighting the need for kidney and urinary tract screenings.

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This study looked at how a specific genetic condition called RMND1-related mitochondrial disease affects the kidneys. Researchers followed four patients and found that all of them developed serious kidney problems, with all needing potential kidney transplants. This is important because traditional treatments for kidney disease often don’t work for these patients, making early diagnosis and consideration for transplants crucial. Who this helps: This helps patients with RMND1-related mitochondrial disease and their doctors.

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This study looked at how genetic differences in a specific gene related to antibody production affect the risk of stroke in a type of rat that is prone to high blood pressure. The researchers found that altering this gene in stroke-susceptible rats significantly lowered their risk of developing cerebrovascular disease, reducing stroke incidents from these rats by a notable margin. This is important because it provides new insights into the genetic factors that contribute to stroke risk, which could help develop targeted treatments or preventive measures. Who this helps: This helps patients at risk of stroke, particularly those with high blood pressure.

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This study looked at the use of therapeutic plasma exchange, a treatment that removes harmful substances from the blood, in children with neurological disorders. Researchers reviewed 50 cases over ten years and found that at discharge, nearly half the children had mental status impairments, while three months later, some improvements were noted, but many still faced motor impairment and other challenges. This treatment is shown to be both effective and safe for young patients dealing with these serious conditions. Who this helps: This helps children with neurological disorders and their families.

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This study looked at how certain genetic differences in rats with high blood pressure affect kidney damage. Researchers found that specific genes on chromosomes 6 and 17 play a role in this kidney damage, and when they swapped these genes with those from a healthier breed of rat, the kidney damage was reduced. This matters because understanding the genetic factors involved in kidney issues can help us better address and treat high blood pressure-related diseases in individuals. Who this helps: This helps patients with high blood pressure and related kidney problems.

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This study looked at how children with renovascular hypertension (high blood pressure due to kidney artery issues) were treated over 27 years. It included 53 patients, most of whom received a non-surgical treatment called transcatheter intervention, which resulted in a notable drop in blood pressure and reduced reliance on blood pressure medications. In contrast, those who had surgery faced more complications and did not show the same improvement in blood pressure. Who this helps: This benefits children with renovascular hypertension and their doctors by highlighting more effective treatment options.

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This study looked at how well peritoneal dialysis catheters work in infants with severe kidney disease. Researchers examined medical records of 25 infants who had catheters inserted, finding that 31% experienced leaking, 26% had blockage, and 18% suffered infections. They found that using a catheter within three days of placement significantly increased the risk of complications, so it's better to wait at least three days before using the catheter to improve outcomes. Who this helps: This benefits infants with end-stage kidney disease and their healthcare providers.

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This study looked at how whole-exome sequencing (WES) can help diagnose kidney and urinary tract problems in patients born with congenital anomalies. Researchers tested 62 families and found that 5% had harmful genetic changes in known genes related to these conditions, and they discovered a new gene, FOXP1, linked to urinary tract defects in 8 individuals. This is important because it enhances our understanding of these genetic issues, potentially leading to better diagnoses and treatments for affected patients. Who this helps: This benefits patients with congenital kidney and urinary tract anomalies and their families.

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The study investigated how a drug called mycophenolate mofetil (MMF) affects stroke-prone rats with high blood pressure and kidney issues. Researchers found that rats treated with MMF had better survival rates and less brain damage compared to those that received a placebo; specifically, the MMF-treated rats had a neurological deficit score of 0.125 versus 1.44 for the placebo group. These results are important because they show that changing the immune response can reduce the risk of strokes and kidney damage. Who this helps: This research benefits patients with high blood pressure and a risk of stroke or kidney disease.

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This research focused on how to choose which unborn babies with bladder problems should receive treatment and what kinds of treatment are most effective. The study followed 111 fetuses with severe lower urinary tract obstruction, finding that those who received a specific prenatal treatment (fetal cystoscopy) had better survival rates and kidney function compared to those who did not receive treatment. Specifically, fetal cystoscopy improved the chances of survival and normal kidney function for those diagnosed with a serious condition called posterior urethral valves. Who this helps: This benefits doctors and families of unborn babies with urinary tract obstructions.

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This study looked at an infant girl who showed hemolytic uremic syndrome (HUS) as a symptom of a genetic mutation linked to Denys-Drash syndrome (DDS). Genetic testing revealed she had a specific mutation in the WT1 gene that is typically associated with DDS. This finding is important because it underscores how HUS can be a rare but significant sign of underlying genetic issues, helping to enhance our understanding of these conditions. Who this helps: This helps doctors and healthcare providers in accurately diagnosing and treating patients with genetic syndromes.

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This study looked at lower urinary tract obstruction (LUTO) in unborn babies and how its severity affects kidney health. They identified four stages of LUTO, with Stage IV being the most dangerous, where severe kidney problems can lead to death shortly after birth or long-term kidney failure. For mild to moderate cases, treatments like fetal surgery can help protect lung and kidney function. Who this helps: This benefits healthcare providers and families expecting a baby diagnosed with LUTO.

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This study looked at the use of a specific anticoagulant called regional citrate anticoagulation (RCA) for treating children with liver failure who needed a special type of dialysis called continuous renal replacement therapy (CRRT). Researchers found that 70% of the 51 patients experienced citrate accumulation (CA), but this didn't lead to more complications, and the dialysis filters worked well, lasting a median of 66 hours. This is important because it shows that RCA can safely help maintain effective dialysis in these vulnerable patients. Who this helps: This research benefits pediatric patients with liver failure and their healthcare providers.

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This study looked at how to predict serious kidney failure in unborn babies with a condition called congenital lower urinary tract obstruction (LUTO). Out of 31 fetuses studied, eight showed signs of kidney failure before birth, with six dying within the first 24 hours after birth and two needing dialysis soon after. The researchers found that if the fetal bladder refilled less than 27% after treatment, it was a strong indicator of future kidney failure, which can lead to severe lung development issues or the need for dialysis shortly after birth. Who this helps: This information benefits doctors and families of babies diagnosed with LUTO.

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The researchers studied a group of 25 unborn babies diagnosed with a condition called lower urinary tract obstruction (LUTO), which can cause serious health issues. They found that 60% of these babies survived after birth, with the placement of a special intervention device called a vesicoamniotic shunt helping 12 out of 14 babies who received it. The study identified factors that increased the chances of survival, like the presence of good urine analysis and the absence of certain kidney issues. Who this helps: This research benefits doctors and healthcare teams involved in prenatal care and intervention for at-risk pregnancies.

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Researchers studied Copa syndrome, a newly identified genetic condition that affects the immune system, making it difficult for the body to defend itself properly. Patients with Copa syndrome often experience symptoms like arthritis and lung problems, with nearly all patients developing an unusual combination of autoantibodies and inflammation. Understanding this syndrome is important because it helps identify the specific biological issues that could lead to new treatments for patients suffering from these debilitating symptoms. Who this helps: This benefits patients with Copa syndrome and their doctors.

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This study looked at why some fetal shunts, which are used to treat urinary blockage in fetuses, come loose. Out of 42 fetuses with a condition called lower urinary tract obstruction, nearly half (52.6%) experienced shunt dislodgement after having the procedure. The research found that the type of shunt used significantly influenced the likelihood of it staying in place. Who this helps: This helps doctors treating expectant mothers with fetuses diagnosed with urinary tract obstructions.

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This study looked at complications that can occur after a specific surgery done on unborn babies to treat a condition called posterior urethral valves (PUV). Out of 40 surgeries, 23 involved a laser treatment, resulting in a survival rate of about 61% and normal kidney function in nearly 86% of the surviving babies. However, 10% of the newborns developed serious complications called urological fistulas, which were linked to factors like the surgical tools used and the experience of the surgeon. Who this helps: This information is valuable for doctors performing this surgery and for families with babies diagnosed with PUV.

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This study looked at how well a new non-invasive method can estimate hemoglobin levels in kids undergoing hemodialysis. Researchers found that their new formula for predicting hemoglobin in pediatric patients was more accurate than the standard adult formula; specifically, it was 93% sensitive and 70% specific in identifying the right hemoglobin levels, compared to 72% sensitivity and 63% specificity of the adult method. This matters because better hemoglobin monitoring can lead to improved anemia management in these vulnerable patients. Who this helps: Pediatric patients on hemodialysis.

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This study focused on autosomal recessive polycystic kidney disease (ARPKD), a serious condition that affects about 1 in 20,000 newborns and can lead to life-threatening issues related to the kidneys and bile ducts. A group of 25 experts from several countries came together to discuss the best ways to diagnose and manage ARPKD, ultimately creating new recommendations to improve patient care based on the latest research and medical advances. These guidelines aim to provide better support for patients from infancy through adulthood by ensuring coordinated care from a team of medical specialists. Who this helps: This helps patients with ARPKD and their families.

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This study looked at how genetic differences affect kidney damage in rats with high blood pressure. Researchers found that certain gene variations in rats prone to kidney injury were linked to worse kidney damage, as shown by increased levels of protein in the urine and signs of injury in kidney tissue. Treatment with an immune-suppressing drug reduced these kidney problems significantly, with protein levels dropping from 6.6 to 1.2 mg/mg, indicating that managing the immune response can help prevent kidney damage in these cases. Who this helps: This benefits patients with high blood pressure and kidney disease.

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Researchers studied different lines of hypertensive rats to understand how genetic factors influence kidney disease related to high blood pressure. They found that one line (SHR-A3) developed severe kidney problems by 18 weeks, with 50% of these rats dead by 40 weeks, while a closely related line (SHR-B2) showed much less kidney damage. This matters because it highlights the genetic basis of kidney disease and could lead to better treatments for patients at risk of renal issues. Who this helps: This helps patients with high blood pressure and related kidney conditions.

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This study looked at the genetic factors that may increase the risk of kidney disease caused by high blood pressure in families. Researchers found that while they identified some common genetic variations linked to this condition, they have not yet found major genetic factors that explain most of the risk. Understanding these genetic influences is important because it could lead to better prevention and treatment strategies for people with a family history of kidney disease. Who this helps: This helps patients with a family history of kidney disease and their doctors.

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This study looked at how a part of the immune system called complement factor C7 affects lung damage caused by the tuberculosis bacteria, Mycobacterium tuberculosis (MTB). Researchers found that mice lacking C7 had less bacterial growth in their livers after 30 days and better lung health at 60 days, including more immune cells that help fight infection. These findings are important because they highlight the potential role of C7 in worsening lung disease during tuberculosis infections, suggesting that targeting this factor might improve treatment strategies. Who this helps: This helps patients with tuberculosis and their doctors.