Nabeel Hashmi's publications span perioperative medicine and cardiac anesthesiology—including point-of-care ultrasound, echocardiography, and organ transplantation—alongside a separate body of work on rare pediatric genetic disorders, particularly metabolic and neuromuscular diseases in Gulf region populations. A recurring focus is bringing advanced diagnostic and therapeutic tools to complex patients, whether through bedside ultrasound in the cardiac ICU or genetic sequencing to identify treatable rare diseases in children.
Publications
Retraction Note: Can financial globalization and good governance help turning emerging economies carbon neutral? Evidence from members of the BRICS-T.
2026
Environmental science and pollution research international
Hashmi NI, Alam N, Jahanger A, Yasin I, Murshed M +1 more
Diagnostic Point-of-Care Ultrasound for the Cardiac Surgical Patient, From Head-to-Toe.
2026
Journal of visualized experiments : JoVE
Hashmi N, Krishnan S, Al-Qudsi O, Olive JK, Bronshteyn YS
Plain English This review describes how bedside ultrasound can be used systematically from head to toe in patients undergoing heart surgery, a group prone to complications in multiple organ systems. For each body region, specific ultrasound techniques are described—from measuring pressure around the brain to checking kidney function and screening for blood clots in the legs. Standardizing this multimodal approach could speed up diagnosis, reduce the need for more invasive tests, and improve care in this vulnerable surgical population.
Immediate Glycemic Outcomes Following Simultaneous Pancreas-Kidney Transplantation: Equivalent Early Metabolic Profiles in Type 1 and Type 2 Diabetes.
2026
Cureus
Jalalzadeh M, Mondal Z, Hashmi N, Bunin S, Shah M +6 more
Plain English This study compared blood sugar control and short-term outcomes in patients who received a combined kidney and pancreas transplant for either type 1 or type 2 diabetes. Despite the two groups having different underlying diabetes types and characteristics going in, their blood sugar levels and graft function during the first month after surgery were virtually identical. The findings support using the same blood sugar management protocols for both patient types after this operation.
Prevalence of Carpal Tunnel Syndrome in Pregnancy and Associated Risk Factors at Ras Al Khaimah, United Arab Emirates.
2026
Annals of African medicine
Bambani T, Srivastava A, Dube R, Patni MAMF, Saif S +4 more
Plain English This survey of 273 pregnant women in the UAE found that 30% had carpal tunnel syndrome—numbness, weakness, and pain caused by pressure on a nerve in the wrist—yet awareness of the condition was low. Women in their second or third pregnancy and those in the third trimester were most affected. The study calls for better patient education about this common and treatable pregnancy complication.
Reduced Penetrance and Variable Expression of Dilated Cardiomyopathy Associated With Homozygous Truncating Variants in NRAP Gene.
2026
Clinical genetics
Alqahtani A, Tulbah S, Alruwaili N, Takroni S, Alkorashy M +8 more
Plain English This study looked at families in which multiple members carried two copies of a mutated NRAP gene (which is involved in heart muscle structure) and examined who developed dilated cardiomyopathy—a condition where the heart enlarges and weakens. The age of onset and severity varied widely even within the same family, and three people with two copies of the mutation had no symptoms at all, showing that not everyone with this genetic change will develop heart disease. These findings challenge simple assumptions about how this genetic condition is inherited.
Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.
2025
Orphanet journal of rare diseases
AlSayed M, Al Rasadi K, AlDhaheri NS, Al-Hussaini A, Awaji A +5 more
Plain English Lysosomal acid lipase deficiency is an extremely rare inherited enzyme disorder that damages the liver and blood vessels, and it is frequently misdiagnosed in Gulf Cooperation Council countries because its symptoms overlap with more common conditions. This review by a regional expert group provides practical recommendations for diagnosing and managing the disease in GCC healthcare settings. The authors also call for expanded genetic testing and regional research to better understand how the disease presents in these populations.
Does financial sector development mitigate power sector-based carbon dioxide emissions to establish environmental sustainability in BRICS?
2025
Journal of environmental management
Hashmi NI, Makhmudov S, Ghardallou W, Alam MM
Plain English This study examined whether developing financial markets in BRICS countries helps reduce carbon dioxide emissions from the power sector. Counterintuitively, financial sector growth alone was associated with higher emissions, but when combined with natural resource development it had an emission-reducing effect—suggesting that channeling green finance toward natural resource productivity could help BRICS nations cut their power sector emissions. Renewable energy expansion was the most reliable driver of emission reductions.
Empowering voices: Predictors and levels of nurses' involvement in healthcare policy.
2025
International nursing review
Al Yahyaei A, Al Rasbi S, Al Kindi Z, Al Omari O, Al Sabei S +2 more
Plain English This survey of over 1,000 nurses in Oman found that nurses have very low participation in healthcare policy decisions, despite strong evidence that nursing input improves policy outcomes. Confidence, training, and interest in policy were the strongest predictors of engagement, while being married or working in certain units reduced participation. Targeted education programs and organizational support are needed to bring nurses more fully into health policymaking.
A potential therapeutic role of resveratrol in mitigating hepatotoxicity induced by paracetamol and alcohol.
2025
Journal of complementary & integrative medicine
Almazrouei MA, Samuel VP, Tawfeeq RF, Hashmi NK, Mahmood YA +4 more
Plain English Researchers tested resveratrol and silymarin—plant-derived compounds with antioxidant properties—in rats with liver damage caused by alcohol and acetaminophen. Both compounds reduced liver enzyme levels and improved liver architecture, but using them together produced better results than either alone. The findings support their potential as treatments for drug-induced liver injury, though human studies are needed.
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
2024
Research square
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA +12 more
Plain English This study identified patients with a muscle disease caused by mutations in the DNAJB4 gene, a protein involved in keeping other proteins properly folded. All affected patients had early-onset respiratory failure and many had rigid spines; specific mutation types in the gene's functional core predicted an earlier and more severe course. Recognizing this disease early—especially in patients with unexplained respiratory failure in childhood or neck stiffness in infancy—is critical because it changes management.
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
2024
Acta neuropathologica communications
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA +12 more
Plain English This study mapped the clinical and genetic spectrum of muscle disease caused by mutations in DNAJB4, identifying five mutation types across seven patients from diverse ethnic backgrounds. Mutations in the gene's J-domain were associated with a more severe and earlier-onset disease than loss-of-function mutations, establishing a clear genotype-phenotype relationship. The findings help predict prognosis and guide monitoring for patients with this rare diagnosis.
Non epileptiform abnormal neurologic signs in newborns following in-utero psychotropic medication exposure.
2024
Journal of neonatal-perinatal medicine
Vaidya R, Hashmi N, Kakshapati S, Chang W, Beachy J
Plain English This case series reported five newborns exposed in the womb to combinations of antidepressants and other psychiatric medications who developed abnormal movements and postures in the first 24 hours of life that looked like seizures—but were not. All underwent extensive neurological workup that was negative for true seizures. The report warns clinicians that in-utero psychiatric medication exposure can cause dramatic but non-epileptic neurological symptoms that may be mistaken for more serious conditions.
A founder mutation incausing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.
2024
JIMD reports
Al-Thihli K, Al Hashmi N, Al Balushi A, Al-Habsi A, Al-Ajmi E +2 more
Plain English This retrospective study described 18 patients with carbonic anhydrase VA deficiency—a rare enzyme disorder causing dangerously high ammonia levels—who all carried the same inherited mutation. The disease showed striking variability: two adult patients had no symptoms at all, while others had recurrent ammonia crises, developmental delays, and growth problems. The findings highlight how a single mutation can produce a wide range of outcomes and point to the likely role of other genetic factors in determining disease severity.
Blood or Fat? Differentiating Hemopericardium versus Epicardial Fat Using Focused Cardiac Ultrasound.
2024
Diagnostics (Basel, Switzerland)
Bronshteyn YS, Hashmi N, Privratsky JR, Barbeito A
Plain English Focused cardiac ultrasound at the bedside is a powerful tool for quickly identifying life-threatening causes of low blood pressure, including blood in the sac around the heart (hemopericardium). However, hemopericardium can be difficult to distinguish from a harmless buildup of fat around the heart (epicardial fat). This paper provides practical image-by-image guidance to help clinicians tell the two apart, which is critical since one requires emergency treatment and the other does not.
Long COVID-19 and primary care: Challenges, management and recommendations.
2024
Semergen
Ahmed S, Ahmad E, Ahmad B, Arif MH, Ilyas HMA +2 more
Plain English This review covers the clinical picture of Long COVID—persistent symptoms lasting weeks to months after the initial infection—and how primary care physicians can recognize and manage it. The causes are complex, involving viral persistence, immune dysregulation, nerve damage, and gut microbiome changes, and risk factors include older age, obesity, and more severe initial illness. The key message is that primary care teams need to coordinate closely with specialists to provide individualized care for this diverse and still-evolving condition.
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.
2024
European journal of medical genetics
Al Jabry T, Al-Hashmi N, Abdelhadi B, Al-Maawali A
Plain English This case report describes a newborn girl who died shortly after birth along with two of her siblings, and whose genetic testing revealed a mutation in the LRP4 gene—a receptor at the junction between nerves and muscles. Previous reports of this gene mutation described only childhood-onset disease, but this family experienced a neonatal lethal form, dramatically expanding what is known about how severe this condition can be. The finding has direct implications for genetic counseling in families with similar histories.
Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant inGene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience.
2024
Journal of pediatric genetics
Al Balushi A, Al Hinai M, Al Hosni A, Al Amrani F, Al Maimani A +2 more
Plain English Four families in Oman had children with distal arthrogryposis with impaired proprioception and touch—a rare inherited nerve condition causing stiff joints, low muscle tone, and impaired sensing of body position. Whole exome sequencing identified a previously unreported mutation in one family. The case series provides a detailed picture of how the condition presents from infancy through childhood, which will help clinicians and genetic counselors recognize it earlier.
Radiation exposure during CT procedures in Tanzania.
2023
Radiation protection dosimetry
Ngoye W, Ndukeki M, Muhogora W, Jusabani A, Ngaile J +15 more
Plain English This study measured radiation doses patients receive during CT scans at multiple hospitals in Tanzania to assess whether dose levels are in line with international safety standards. Dose values were established for the most common scan types—head, chest, abdomen, and spine—providing a benchmark for radiation optimization in the country. The data are intended to help Tanzanian hospitals reduce unnecessary radiation exposure through dose comparison and protocol adjustment.
Bioequivalence assessment of two Ticagrelor formulations under fasting condition in healthy Pakistani subjects.
2023
Pakistan journal of medical sciences
Hashmi N, Jawaid M, Shah MR
Plain English This clinical trial in Pakistan compared a generic ticagrelor blood thinner tablet to the brand-name version in healthy volunteers to determine whether they are medically interchangeable. The key pharmacokinetic measures—peak drug concentration and area under the concentration-time curve—were within the accepted range for bioequivalence, and no serious side effects occurred. The generic formulation is safe and equivalent to the brand-name product.
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
2023
Orphanet journal of rare diseases
Al Busaidi M, Mohamed FE, Al-Ajmi E, Al Hashmi N, Al-Thihli K +4 more
Plain English This case series reported seven children from four families in the UAE and Oman with a rare enzyme disorder (PEPCK-C deficiency) that impairs the body's ability to make glucose, causing hypoglycemia and sometimes serious brain and liver damage. Two novel genetic mutations were found. The authors recommend considering this diagnosis whenever a child has unexplained low blood sugar, particularly in populations where consanguineous marriages are common.
COVID-19 pandemic and financial market volatility: A quantile regression approach.
2023
Heliyon
Ullah S, Khan S, Hashmi NI, Alam MS
Plain English This statistical study used data from 30 countries to analyze how COVID-19 case counts and deaths affected stock market volatility in 2020. New cases and deaths both increased market volatility, and this pattern held in both developed and emerging markets. The findings call for coordinated international policy responses—including monetary measures—to stabilize markets during future health crises.
Prevention of contamination after endotracheal intubation using a dedicated sleeve.
2023
Journal of thoracic disease
Pino A, Lee JJ, Hashmi NK, Brucker A, Chow SC +1 more
Plain English This study tested whether a special disposable sleeve for storing a used laryngoscope blade after intubation could reduce contamination of work surfaces compared to using gloves. The sleeve reduced work surface contamination from 80-100% with standard glove techniques down to 13%, without affecting contamination of the provider's gown or gloves. The finding supports adding this simple device to infection control protocols in intubation settings.
The Quality Improvement Fellow: Educating on Making the Difference.
2023
A&A practice
Pereira ROL, Ohnuma T, Mehdiratta N, Hashmi NK, Patoli DM +1 more
Plain English This article describes a structured quality improvement training program for critical care medicine fellows during their anesthesiology fellowship. The program places fellows in mentored roles where they manage real QI data, run improvement conferences, and lead initiatives—providing hands-on experience that most training programs lack. The model offers a practical curriculum for building operational leadership skills in future critical care leaders.
Risk and predictors of severity and mortality in patients with type 2 diabetes and COVID-19 in Dubai.
2023
World journal of diabetes
Alawadi F, Bashier A, Bin Hussain AA, Al-Hashmi N, Bachet FAT +10 more
Plain English This study in Dubai compared COVID-19 outcomes in over 1,000 hospitalized patients with and without type 2 diabetes during the first pandemic wave. Diabetic patients were significantly older, had more comorbidities, and died from COVID-19 at three times the rate of non-diabetic patients. Low lymphocyte count was the only independent predictor of death specifically in diabetic patients, which can help clinicians prioritize their management.
Domino liver transplantation for maple syrup urine disease in children: A single-center case series.
2023
Pediatric transplantation
Kumar V, Gautam V, Agarwal S, Pandey V, Goyal S +9 more
Plain English In domino liver transplantation, a donor with a metabolic liver disease (whose liver is otherwise healthy) gives their liver to a recipient with liver failure, while they receive a liver from a different donor. This single-center case series described 11 children with maple syrup urine disease who served as domino donors. All MSUD children had 100% survival and returned to a normal diet, while survival in their recipients was 66% at follow-up, showing this approach is a viable way to expand the donor pool for children.
Pulmonary Vein Systolic Flow Reversal Seen With Severe Tricuspid Regurgitation.
2023
CASE (Philadelphia, Pa.)
Cai SR, Pollak A, Madsen G, McCartney S, Hashmi N +2 more
Plain English This brief case report documents an unusual echocardiographic finding: systolic reversal of flow in the pulmonary veins—previously thought to be specific to severe mitral valve regurgitation—observed in a patient with severe tricuspid regurgitation. The finding likely reflects pressure changes transmitted between the right and left sides of the heart through interatrial communication. It expands the known causes of this echo pattern, which has diagnostic implications.
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
2023
Molecular genetics & genomic medicine
Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N +8 more
Plain English This 15-year study of 77 children in Oman with steroid-resistant nephrotic syndrome—a kidney disorder causing protein loss in urine that does not respond to standard therapy—found underlying genetic mutations in 79% of cases. The most common mutation was in the NPHS2 gene. Early genetic diagnosis in these children changes management, avoids unnecessary immunosuppression, and enables accurate genetic counseling for families.
Nutraceutical Effect of Resveratrol on the Mammary Gland: Focusing on the NF-κb /Nrf2 Signaling Pathways.
2023
Animals : an open access journal from MDPI
Malik MUUH, Hashmi N, Khan M, Aabdin ZU, Sami R +4 more
Plain English This laboratory study in mice tested whether resveratrol can counteract the inflammation and oxidative stress triggered by bacterial toxin exposure in mammary tissue. Resveratrol treatment restored several molecular markers of inflammation and oxidative stress toward normal levels, while the anti-inflammatory transcription factor Nrf2 rebounded. The findings support a potential protective role for resveratrol in mammary gland inflammation, though this was an animal study.
Can financial globalization and good governance help turning emerging economies carbon neutral? Evidence from members of the BRICS-T.
2023
Environmental science and pollution research international
Hashmi NI, Alam N, Jahanger A, Yasin I, Murshed M +1 more
Plain English This economic study examined whether financial globalization and good governance can help six major emerging economies move toward carbon neutrality. De facto financial openness was found to increase emissions, while de jure (policy-based) financial openness reduced them; stronger governance also lowered long-term emissions. The findings suggest that the quality of financial policy matters more than financial openness per se for environmental outcomes.
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.
2023
Journal of clinical research in pediatric endocrinology
Al Shidhani A, Al Hinai A, Al Thihli K, Al Mandhari H, Al Yaarubi S +3 more
Plain English This case report describes a newborn who simultaneously had two rare metabolic conditions: congenital hyperinsulinism (abnormal insulin secretion causing low blood sugar) and maple syrup urine disease (inability to break down certain amino acids). Managing both conditions at once required careful balancing of glucose levels and amino acid intake; the child eventually required near-total removal of the pancreas and is developing normally at age 29 months. The case is likely unique in the published literature.
Antimicrobial and antioxidant activities of fennel oil.
2022
Bioinformation
Naaz S, Ahmad N, Qureshi MI, Hashmi N, Akhtar MS +1 more
Plain English This study tested whether a plant growth promoter (ISA) could enhance the medicinal properties of fennel essential oil. Higher doses of ISA increased the oil's antioxidant and antibacterial activity, as well as the concentration of the oil's main active compounds. The findings suggest agricultural interventions can meaningfully improve the therapeutic potential of herbal plant products.
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
2022
Orphanet journal of rare diseases
Al-Hassnan Z, Hashmi NA, Makhseed N, Omran TB, Al Jasmi F +1 more
Plain English This Gulf region expert consensus provides practical recommendations for diagnosing and treating infantile-onset Pompe disease, a rapidly fatal inherited enzyme disorder affecting heart and muscle in newborns and infants. The guidelines address screening, enzyme replacement therapy, and immunomodulation—a newer approach to prevent immune reactions that can limit treatment effectiveness—tailored to healthcare realities in Saudi Arabia, Kuwait, Oman, Qatar, and the UAE. Timely diagnosis and a structured treatment plan are essential to give affected infants the best chance of survival.
Predictive capabilities of the European registry for patients with mechanical circulatory support right-sided heart failure risk score after left ventricular assist device implantation.
2022
Journal of cardiothoracic and vascular anesthesia
Nicoara A, Wright MC, Rosenkrans D, Patel CB, Schroder JN +7 more
Plain English This single-center study tested whether a European-derived risk score predicts which patients will develop right heart failure after receiving a left ventricular assist device—a mechanical pump for severe heart failure. The preoperative score did not significantly predict right heart failure in this cohort, but a postoperative version did. The findings highlight that no current risk score performs well enough to reliably guide clinical decisions, and better tools are urgently needed.
The marginal effects of economic growth, financial development, and low-carbon energy use on carbon footprints in Oman: fresh evidence from autoregressive distributed lag model analysis.
2022
Environmental science and pollution research international
Alam N, Hashmi NI, Jamil SA, Murshed M, Mahmood H +1 more
Plain English This study modeled the drivers of Oman's carbon footprint from 1984 to 2018 and found that Oman has already passed the income threshold where economic growth starts reducing emissions—a relationship known as the Environmental Kuznets Curve. Financial development alone increased emissions, but combined with low-carbon energy consumption it helped reduce them. Scaling up renewable energy is the most effective strategy for Oman to meet its 2040 carbon-neutrality goal.
Further phenotypic delineation of Alazami syndrome.
2022
American journal of medical genetics. Part A
Al-Hinai A, Al-Hashmi S, Ganesh A, Al-Hashmi N, Al-Saegh A +5 more
Plain English This paper reports 12 new patients with Alazami syndrome, a rare genetic condition causing severe growth restriction, intellectual disability, and distinctive facial features, identified by mutations in the LARP7 gene. Beyond the three core features, new findings included heart defects, kidney and eye abnormalities—features not previously associated with this syndrome. Whole-exome sequencing is key to diagnosing this condition, which is likely underrecognized.
Sleeve gastrectomy versus Roux-en-Y Gastric Bypass for remission of type 2 diabetes mellitus at 1, 3 and 5 years: a systematic review and meta-analysis.
2022
Minerva gastroenterology
Fatima K, Farooqui SK, Ajaz I, Ali ST, Hashmi N +5 more
Plain English This systematic review and meta-analysis of 15 randomized controlled trials compared Roux-en-Y gastric bypass and sleeve gastrectomy for sending type 2 diabetes into remission. Gastric bypass achieved higher remission rates at 1 year and at 5 years using broad criteria, but the difference largely disappeared at 3 years and with stricter remission definitions. For most patients, both operations are effective, but gastric bypass may have an edge for long-term diabetes remission.
Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.
2022
Journal of community genetics
Bruwer Z, Al Ubaidani S, Al Kharusi K, Al Murshedi F, Al-Maawali A +10 more
Plain English This study tracked 148 prenatal diagnoses performed over 9 years in Oman for inherited single-gene disorders in Muslim families. Among affected pregnancies confirmed by testing, 71% were terminated—a higher rate than might be expected in a conservative Islamic society, and consistent with religious guidelines that permit termination before 120 days for serious genetic conditions. The findings provide real-world data on how families in Oman make decisions about pregnancy and genetic risk.
Anesthetic Management in Adults with Congenital Heart Disease.
2022
Current cardiology reports
Andrews JS, Hashmi NK
Plain English This review summarizes special considerations for anesthesiologists managing adults with congenital heart disease, a growing population that faces unique challenges during surgery and procedures throughout their lives. The cardiac and non-cardiac complications of congenital heart disease have important implications for anesthetic choice, monitoring, and team coordination. Current guidelines recommend a multidisciplinary approach and referral to centers with specialized expertise whenever possible.
The risk of cutaneous mucormycosis associated with COVID-19: A perspective from Pakistan.
2022
The International journal of health planning and management
Asri S, Akram MR, Hasan MM, Asad Khan FM, Hashmi N +2 more
Plain English This commentary discusses the risk of cutaneous mucormycosis—a dangerous invasive fungal infection—rising in Pakistan in the wake of the COVID-19 pandemic. High steroid use, immune suppression from viral infection, prolonged ICU stays, and limited laboratory capacity all contribute. The authors argue that Pakistan's healthcare system faces a dual burden and provide recommendations for better surveillance and antifungal stewardship.
Plain English This systematic review examined what is known about the impact of blood transfusions on outcomes after lung transplantation, where transfusions are common but potentially harmful. Most evidence comes from single-center retrospective studies, limiting firm conclusions about whether and how to minimize transfusions in this setting. The review identifies key unanswered questions and calls for better-designed prospective studies.
The Year in Perioperative Echocardiography: Selected Highlights from 2020.
2021
Journal of cardiothoracic and vascular anesthesia
Khoche S, Hashmi N, Bronshteyn YS, Choi C, Poorsattar S +1 more
Plain English This annual review article summarizes notable research published in 2020 in perioperative echocardiography—the use of ultrasound to assess the heart before, during, and after surgery. The article highlights advances relevant to diagnosing and managing patients after heart surgery. It serves as an educational update for clinicians who use echocardiography in surgical and critical care settings.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
2021
Genetics in medicine : official journal of the American College of Medical Genetics
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K +32 more
Plain English Researchers reanalyzed undiagnosed patients after standard genetic testing by systematically looking at variants in genes not yet linked to any known disease, and by pooling cases with similar variants across a large database of over 33,000 patients. They identified six novel gene-disease connections and supporting evidence for 31 additional candidate genes spanning a range of conditions from intellectual disability to skeletal abnormalities. This approach demonstrates the value of data sharing and systematic re-analysis in diagnosing patients who remain undiagnosed after routine testing.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
2021
The Journal of allergy and clinical immunology
Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P +32 more
Plain English Loss of the DIAPH1 gene causes a rare syndrome with seizures, cortical blindness, and microcephaly, but this study found that affected patients also develop immune deficiency and mitochondrial dysfunction not previously described with this condition. Laboratory experiments showed that DIAPH1 loss impairs T cell activation and disrupts energy-producing machinery in cells. Three patients developed B-cell lymphoma, highlighting the cancer risk in this immunodeficient state.
Pilot study assessing the effect of osteopathic manipulative treatment (OMT) on length of stay in neonates after therapeutic hypothermia.
2021
Journal of osteopathic medicine
Bendixen K, Beinlich A, Beck B, Hashmi N, Craig A
Plain English This pilot study tested whether osteopathic manipulative treatment (gentle manual therapy) could help term newborns who had undergone cooling therapy for brain injury feed more quickly and go home sooner. Babies who received the therapy had a mean hospital stay of 9.1 days versus 11.6 in historical controls, though the difference was not statistically significant in a sensitivity analysis. The results support designing a larger trial to definitively test this intervention.