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Comorbidity Of Cerebral Palsy And Bipolar Disorder In Two Adolescents: Case Series, Ayda Beril Nas Ünver, Merve Onat, Esra Çöp Jan 2026

Comorbidity Of Cerebral Palsy And Bipolar Disorder In Two Adolescents: Case Series, Ayda Beril Nas Ünver, Merve Onat, Esra Çöp

Journal of Pediatric Neurology

Cerebral palsy (CP) is a common condition in children that affects movement and posture due to non-progressive disruptions during cerebral development. Patients with CP are at a higher risk of developing mental health disorders due to social and physical factors. 28%–57% of children diagnosed with CP exhibit psychiatric diagnoses or symptoms. The symptoms of intellectual disability and related behavioral disorders that are often associated with cerebral palsy can be easily confused with the symptoms of a mood disorder. Therefore, there is a possibility of a delay in the diagnostic procedure and the commencement of treatment, which could potentially endanger the …


Psychological Factors And Family Communication In Children And Adolescents With Elimination Disorders, Mehdi Ebrahimi, Hossein Mousavi Nasab, Mehrdad Hosseinpour, Noshirvan Khezri Moghadam Jan 2026

Psychological Factors And Family Communication In Children And Adolescents With Elimination Disorders, Mehdi Ebrahimi, Hossein Mousavi Nasab, Mehrdad Hosseinpour, Noshirvan Khezri Moghadam

Journal of Pediatric Neurology

Background: Elimination disorders, such as urinary (enuresis) and fecal incontinence (encopresis), involve inappropriate voiding beyond the expected age due to developmental, psychological, or physiological factors. These conditions impact children’s emotional well-being, self-esteem, social functioning, and family relationships. However, few studies have compared psychological functioning and family communication in affected children. This study examines general health, behavioral problems, and mother-child relationships in children with elimination disorders versus healthy peers. Methods: Seventy-two children participated: 25 with urinary incontinence, 24 with fecal incontinence, and 23 healthy controls. Participants were recruited from hospitals in Isfahan. Data were collected using standardized questionnaires: the General Health …


Adolescent-Onset Leigh Syndrome Associated With Homozygous Ndufv1 C.640g>A (P.E214k) In Low-German Mennonites Of Southwestern Ontario, Prashanth Rajasekar, Chitra Prasad, Victoria Mok Siu, Charles Anthony Rupar, Asuri Narayan Prasad Jan 2026

Adolescent-Onset Leigh Syndrome Associated With Homozygous Ndufv1 C.640g>A (P.E214k) In Low-German Mennonites Of Southwestern Ontario, Prashanth Rajasekar, Chitra Prasad, Victoria Mok Siu, Charles Anthony Rupar, Asuri Narayan Prasad

Journal of Pediatric Neurology

Objective: Leigh syndrome, formerly known as infantile subacute necrotizing encephalomyelopathy, is a progressive neurometabolic disorder characterized by midbrain and brainstem lesions leading to rapid neurodegeneration. Pathological variants in over 80 nuclear encoded genes, predominantly affecting respiratory chain and energy metabolism proteins, have been implicated in Leigh syndrome. This paper aims to provide an overview of current understanding of Leigh syndrome, emphasizing clinical, pathological, and molecular genetic aspects, with a specific focus on a novel finding of adolescent onset Leigh syndrome associated with variant c.640G>A identified among Low German-speaking Mennonite families in Southwestern Ontario. Methods: We present a case series …


An Album Quilt, John Mcphee Jan 2026

An Album Quilt, John Mcphee

Creative Nonfiction Magazine

No abstract provided.


Original Friend, Donald Morrill Jan 2026

Original Friend, Donald Morrill

Creative Nonfiction Magazine

No abstract provided.


Transit, K.E. Ellingson Jan 2026

Transit, K.E. Ellingson

Creative Nonfiction Magazine

No abstract provided.


Opsoclonus In Children: Diagnosis, Etiology And Ophthalmologic Assessment Of Patients At A Tertiary Children’S Hospital, Melissa Yuan, Jacqueline Jeon-Chapman, Tais Estrela, Ryan Gise Jan 2026

Opsoclonus In Children: Diagnosis, Etiology And Ophthalmologic Assessment Of Patients At A Tertiary Children’S Hospital, Melissa Yuan, Jacqueline Jeon-Chapman, Tais Estrela, Ryan Gise

Journal of Pediatric Neurology

Introduction: Opsoclonus is often associated with serious neurologic and paraneoplastic pathology. Pediatric ophthalmologists play an important role in its diagnosis. Methods: Retrospective chart review of patients seen for suspicion of opsoclonus. Results: 259 patients were identified for whom opsoclonus was suspected, of which 83 (32%) were found to be true opsoclonus. The ophthalmology consultation changed the course of workup in 44 of the 117 patients that received ophthalmologic evaluation (38%). 16 (9%) were found to have primary ophthalmic diagnoses. Of the 83 children with opsoclonus, 36 (43%) had paraneoplastic opsoclonus-myoclonus-ataxia syndrome (OMAS), 32 (39%) had non-paraneoplastic OMAS, 1 (1.2%) had …


A June Journal, David Gessner Jan 2026

A June Journal, David Gessner

Creative Nonfiction Magazine

No abstract provided.


I Thought I Heard Buddy Bolden Say, Brenda Marie Osbey Jan 2026

I Thought I Heard Buddy Bolden Say, Brenda Marie Osbey

Creative Nonfiction Magazine

No abstract provided.


Primary Amoebic Meningoencephalitis (Pam) With Progression To Brain Death Following Naegleria Fowleri Infection In A Teenage Female, Samantha Brener, Stephen Schaffner, Ingrid Y. Camelo, Hasan Samra, Renuka Mehta Jan 2026

Primary Amoebic Meningoencephalitis (Pam) With Progression To Brain Death Following Naegleria Fowleri Infection In A Teenage Female, Samantha Brener, Stephen Schaffner, Ingrid Y. Camelo, Hasan Samra, Renuka Mehta

Journal of Pediatric Neurology

Background: Naegleria fowleri is a high-temperature freshwater-living amoeba causing PAM by invading nasal epithelium. N. fowleri lives ubiquitously in high-temperature freshwater, but only around 400 cases of PAM have been published worldwide. The mortality rate is 98%. No treatment is 100% effective. Case Presentation: A previously healthy 17-year-old female presented to an urgent care center with fever, headache, sore throat, ear pain, and dizziness. She had swum in freshwater 5 days prior. Her symptoms progressed to altered mental status, photo- and phonophobia, and neck stiffness. Within 4 days, she developed increased intracranial pressure (ICP) and eventually brain death. Two unsuccessful …


Examining Neural Correlates Of Sexual Preferences Between Persian Homo- And Heterosexual Males Using Psychological Assessments And Functional Magnetic Resonance Imaging In Specifying Cognitive Map: A Limited And Cross-Sectional Study, Abdollah Khorshidi Jan 2026

Examining Neural Correlates Of Sexual Preferences Between Persian Homo- And Heterosexual Males Using Psychological Assessments And Functional Magnetic Resonance Imaging In Specifying Cognitive Map: A Limited And Cross-Sectional Study, Abdollah Khorshidi

Journal of Pediatric Neurology

Although the brain is an important part of a person’s sexual life, little is known about the correlations between sexual response and brain activation. This study examines brain response through clinical testing to reveal a number of brain structures whose activation are relevant to sexual arousal besides psychological testing according to the common traditional values and standards of Iranian society. Based on initial self-report, 25 homosexual and 25 heterosexual males participated in this test to elucidate the identity and sexual trends via Minnesota Multiphasic Personality Inventory (MMPI-2). Also, an fMRI technique — by presenting distinct homo- and heterosexual sex erotic …


Comprehensive Clinical And Neuroimaging Review Of Posterior Fossa Hemorrhage In Preterm And Term Newborns, Mandy Hsu, Zahra Zhu, Sirajul Islam, Ryan J. Chang, Nouran Hammad, Kalyan C. Bonda, Ermal Aliu, Chintan Gandhi, Gayatra Mainali, Krishnamoorthy Thamburaj, Sunil Naik Jan 2026

Comprehensive Clinical And Neuroimaging Review Of Posterior Fossa Hemorrhage In Preterm And Term Newborns, Mandy Hsu, Zahra Zhu, Sirajul Islam, Ryan J. Chang, Nouran Hammad, Kalyan C. Bonda, Ermal Aliu, Chintan Gandhi, Gayatra Mainali, Krishnamoorthy Thamburaj, Sunil Naik

Journal of Pediatric Neurology

Posterior fossa hemorrhage (PFH) is a highly morbid condition in preterm and term infants. In this article, we aim to first describe a case of posterior fossa hemorrhage (PFH) and using this example, provide a comprehensive narrative review of the pathophysiology, risk factors, diagnosis, and management of PFH. Management may differ depending on the etiology and based on careful consideration of the risks and benefits of surgical versus conservative management.


Aging In Europe: Implications And Possibilities, Jason L. Powell, Rebecca Steel Jan 2026

Aging In Europe: Implications And Possibilities, Jason L. Powell, Rebecca Steel

Fast Capitalism

No abstract provided.


Setting, Speaking, And Framing In The News Discourse Of Elected Executions: A Play In Three Acts, C. Lee Harrington, Heather Reece, Glenn W. Muschert Jan 2026

Setting, Speaking, And Framing In The News Discourse Of Elected Executions: A Play In Three Acts, C. Lee Harrington, Heather Reece, Glenn W. Muschert

Fast Capitalism

No abstract provided.


“No, They’Re Not Digital Natives And They’Re Not Addicted”: An Essay Critiquing Contestable Labels, Nicola F. Johnson Jan 2026

“No, They’Re Not Digital Natives And They’Re Not Addicted”: An Essay Critiquing Contestable Labels, Nicola F. Johnson

Fast Capitalism

No abstract provided.


The Art Of Translation, Steven Harvey Jan 2026

The Art Of Translation, Steven Harvey

Creative Nonfiction Magazine

No abstract provided.


How And Why, Jane Bernstein Jan 2026

How And Why, Jane Bernstein

Creative Nonfiction Magazine

No abstract provided.


Extraordinary Or Excessive? Rethinking Nonretroactive Changes In Decisional Law As Grounds For Compassionate Release, Anna Zumbar Jan 2026

Extraordinary Or Excessive? Rethinking Nonretroactive Changes In Decisional Law As Grounds For Compassionate Release, Anna Zumbar

Akron Law Review

Federal courts are deeply divided on whether nonretroactive changes in decisional law affecting sentencing are an “extraordinary and compelling reason” for compassionate release under 18 U.S.C. § 3582(c)(1)(A), The First, Second, Fourth, and Tenth Circuits recognize district courts’ broad discretion to weigh such changes, emphasizing that broad judicial discretion supports consideration of any relevant factors. In contrast, the Sixth, Seventh, Eights, and D.C. Circuits exclude nonretroactive changes in decisional law from consideration, confining “extraordinary and compelling reasons” to narrower circumstances. This circuit split has produced inconsistent outcomes, with similarly situated defendants subject to disparate treatment based solely on geography. The …


Keeping Children Safe: Bring Kayden's Law To Ohio, Christina Woods-Tsiperson Jan 2026

Keeping Children Safe: Bring Kayden's Law To Ohio, Christina Woods-Tsiperson

Akron Law Review

After decades of punishing murder-suicide headlines, a growing body of evidence now corroborates what female domestic violence survivors have said for years: that family courts deciding child custody cases disproportionately reject mothers’ allegations of domestic violence and paternal child abuse. From prominent legal scholars to local family law attorneys (and increasingly, investigative reporters), many modern voices contend that mothers specifically face a litany of obstacles in court, including heightened judicial suspicion that they are “parental alienators,” a widespread minimization of coercive control, and state legal standards that  emphasize shared parenting over child safety.

Following the widely publicized murder of seven-year-old …


Pork Producers, Product Bans, And Petering Out Dormant Commerce Clause Extraterritoriality Inquiries, Sam Kalen Jan 2026

Pork Producers, Product Bans, And Petering Out Dormant Commerce Clause Extraterritoriality Inquiries, Sam Kalen

Akron Law Review

Constitutional commentary on the dormant Commerce Clause (DCC) reflects the Court’s persistent failure to appreciate how the clause’s contemporary application is problematic.  The 2023 Pork Producers case was a propitious opportunity for the Court to resolve lingering issues, such as whether the DCC ought to include an inquiry into whether a subnational regulation produces impermissible extraterritorial effects, or whether the Pike v. Bruce Church balancing test remains an apt function for the judiciary.  The Court squandered that opportunity, unfortunately.  And this article examines how that transpired.  It explores how product bans, such as the one adopted by California for humane …


Unfit For Human Consumption: A Bone To Pick With Boneless Wings, H. Beau Baez Jan 2026

Unfit For Human Consumption: A Bone To Pick With Boneless Wings, H. Beau Baez

Akron Law Review

This article examines defective food laws after the Ohio Supreme Court held that “boneless” in boneless chicken wings does not mean “without bones.” The result in this case is a man with permanent injuries was precluded from recovering damages after eating a menu item described as “boneless.”

The article begins by discussing the case, Berkheimer v. REKM, and the rationale used by the court for allowing summary judgment against the plaintiff.  Next, the article examines legal history, beginning with 13th century unwholesome food statutes.  This section demonstrates that the law for unwholesome food, until the 20th century, …


Habitat Destruction: The Where Of Biodiversity Law, Andrew W. Torrance Ph.D., Bill Tomlinson Ph.D. Jan 2026

Habitat Destruction: The Where Of Biodiversity Law, Andrew W. Torrance Ph.D., Bill Tomlinson Ph.D.

Akron Law Review

The existence of appropriate habitats is essential to the continued existence of all species with which humans share the Earth. However, humans are currently enacting changes around the globe--anthropogenic environmental disruption--that threaten the habitats of many species. In this article, we first summarize existing habitat-related law in various countries, including legal designation of areas for protection (e.g., national parks), laws that enable conservation organizations to purchase but not utilize development rights, and international treaties such as the Convention on Biological Diversity or the Ramsar Convention on Wetlands of International Importance. We then propose a suite of novel approaches …


Exploratory Study Of The Importance Of Emotional Intelligence In Relation To Organizational Performance: The Case Of Managers, Safae El Ghazi, Mounia Cherkaoui Jan 2026

Exploratory Study Of The Importance Of Emotional Intelligence In Relation To Organizational Performance: The Case Of Managers, Safae El Ghazi, Mounia Cherkaoui

Revue Marocaine de Droit, d'Economie et de Gestion (Moroccan Journal of Law, Economics and Management)

This exploratory study investigates the relationship between emotional intelligence and organizational performance among Moroccan managers. Based on qualitative interviews, the findings highlight the growing importance of emotions and human factors in managerial performance.


Comparing Educational Pathways For Denturists To Become Maxillofacial Prosthetic Specialists In The Us And The Uk, Minseok Kim Jan 2026

Comparing Educational Pathways For Denturists To Become Maxillofacial Prosthetic Specialists In The Us And The Uk, Minseok Kim

Oral Health

Abstract

In the absence of formal training, licensure, and professionalism, this scientific literature review will seek to include denturists in the American maxillofacial prosthetics industry. Denturists are oral health professionals who perform oral examination, design, manufacture, and place removable oral prostheses. In other regions of the world, they are also known as clinical dental technologists and dental prosthetists. This practice is not widespread in the US. The review can also be assessed on the model mediated by PRISMA, which is concentrated on the experiences of international education in the United Kingdom, Canada, and Australia, where the concentration further revolves around …


Practice Variability And Unplanned Extubation Rates Across Pediatric Intensive Care Units, Krista Wollny, Amy Metcalfe, Karen Benzies, Simon J. Parsons, Tolulope Sajobi, Deborah Mcneil Jan 2026

Practice Variability And Unplanned Extubation Rates Across Pediatric Intensive Care Units, Krista Wollny, Amy Metcalfe, Karen Benzies, Simon J. Parsons, Tolulope Sajobi, Deborah Mcneil

Journal of Pediatric Intensive Care

Objectives The purpose of this study was to describe the care of intubated patients in pediatric critical care. Acknowledging there are several perceived factors that contribute to unplanned extubations, a secondary objective was to describe how practice variation may relate to observed differences in unplanned extubation rates. Methods A survey about practices related to the care of intubated patients was distributed to all PICUs participating in the Virtual Pediatrics System (VPS, LLC). Unplanned extubation rates for 2019-2020 were obtained from VPS. Univariate and bivariate analyses were performed to describe the responses, with unplanned extubation rates calculated as means. The text …


Development And Optimization Of A Remote Pediatric Cardiac Critical Care Bootcamp Using Telesimulation, Felina Mille, Amy Romer, Tarif A. Choudhury, Adrian D. Zurca, Stacie B. Peddy, Keith Widmeier, Marjorie Hamburger, Venkat Shankar Jan 2026

Development And Optimization Of A Remote Pediatric Cardiac Critical Care Bootcamp Using Telesimulation, Felina Mille, Amy Romer, Tarif A. Choudhury, Adrian D. Zurca, Stacie B. Peddy, Keith Widmeier, Marjorie Hamburger, Venkat Shankar

Journal of Pediatric Intensive Care

Objectives: We developed a novel cardiac critical care bootcamp consisting of didactic, small-group and simulation sessions. The bootcamp was remote due to the COVID-19 pandemic and included telesimulation. We aimed to assess learners’ reactions to the bootcamp and their perception of telesimulation. Methods: Paired anonymous surveys were administered before and after participation. Surveys assessed participants’ comfort in independently managing cardiac critical care scenarios, perceptions of telesimulation, barriers to its effectiveness, and specific feedback on course components. Results: Forty-three fellows from 10 institutions joined the bootcamp over two years. 38 pre- and 28 post-course surveys were completed. The course was rated …


The Association Of Teamwork And Adverse Tracheal Intubation–Associated Events (Tiaes) In Advanced Airway Management In The Pediatric Icu, John F. Jennings, Sholeen Nett, Rachel Umoren, Robert Murray, Aaron Kessel, Natalie Napolitano, Michelle Adu-Darko, Katherine Biagas, Philipp Jung, Debra Spear, Simon Parsons, Ryan Breuer, Keith Meyer, Matthew Malone, Asha Shenoi, Anthony Lee, Palen Mallory, Awni Al-Subu, Keiko Tarquinio, Lily Glater, Megan Toal, Jan Hau Lee, Matthew Pinto, Lee Polikoff, Erin Own, Iris Toedt-Pingel, Mioko Kasagi, Laurence Ducharme-Crevier, Makoto Motomura, Masafumi Gima, Serena Kelly, Josep Panisello, Gabrielle Nuthall, Kelsey Gladen, Justine Shults, Vinay Nadkarni, Akira Nishisaki Jan 2026

The Association Of Teamwork And Adverse Tracheal Intubation–Associated Events (Tiaes) In Advanced Airway Management In The Pediatric Icu, John F. Jennings, Sholeen Nett, Rachel Umoren, Robert Murray, Aaron Kessel, Natalie Napolitano, Michelle Adu-Darko, Katherine Biagas, Philipp Jung, Debra Spear, Simon Parsons, Ryan Breuer, Keith Meyer, Matthew Malone, Asha Shenoi, Anthony Lee, Palen Mallory, Awni Al-Subu, Keiko Tarquinio, Lily Glater, Megan Toal, Jan Hau Lee, Matthew Pinto, Lee Polikoff, Erin Own, Iris Toedt-Pingel, Mioko Kasagi, Laurence Ducharme-Crevier, Makoto Motomura, Masafumi Gima, Serena Kelly, Josep Panisello, Gabrielle Nuthall, Kelsey Gladen, Justine Shults, Vinay Nadkarni, Akira Nishisaki

Journal of Pediatric Intensive Care

Background: Tracheal intubation in critically ill children is a life-saving, but high-risk procedure that involves multiple team members with diverse clinical skills. We aim to examine the association between the provider-reported teamwork rating and the occurrence of adverse tracheal intubation–associated events (TIAEs). Methods: A retrospective analysis of prospectively collected data from 45 pediatric intensive care units (PICUs) in the National Emergency Airway Registry for Children (NEAR4KIDS) database from January 2013 to March 2018 was performed. A composite teamwork score was generated using the average of each of five (7-point Likert scale) domains in the teamwork assessment tool. Poor teamwork was …


Outcomes Of Pediatric Patients With Sepsis Managed On Extracorporeal Membrane Oxygenation: An Analysis Of The Elso Registry, Adrian Holloway, Jason Custer, Ripal Patel, Peta Alexander, Peter Rycus, Cortney Foster, Dayanand Bagdure, Angelina June, Vladimir Michtcherkin, William Blackwelder, Carissa Baker-Smith, Adnan Bhutta Jan 2026

Outcomes Of Pediatric Patients With Sepsis Managed On Extracorporeal Membrane Oxygenation: An Analysis Of The Elso Registry, Adrian Holloway, Jason Custer, Ripal Patel, Peta Alexander, Peter Rycus, Cortney Foster, Dayanand Bagdure, Angelina June, Vladimir Michtcherkin, William Blackwelder, Carissa Baker-Smith, Adnan Bhutta

Journal of Pediatric Intensive Care

Objective: Extracorporeal Membrane Oxygenation (ECMO) support is increasingly used for refractory septic shock. There is lack of data on the outcomes of children requiring ECMO support for refractory septic shock. Our study objective was to describe the variables associated with survival, risk factors for mortality and outcomes of children requiring ECMO support for refractory shock. Materials and Methods: Retrospective registry study of 340 international centers contributing data to the ELSO Registry, analyzing children <18 years who received ECMO with septic shock, severe sepsis, sepsis, SIRS, toxic shock syndrome, shock associated with infection and septicemia from any organism from 1990 to 2015. Outcomes were analyzed by categorizing the data into survivors and non-survivors. Logistic regression models were used to describe the association of dependent variable and multiple independent variables. Results: A total of 1928 patients were identified which met the inclusion criteria. 744 (38.5%) of the cohort survived. Survivors in this cohort tend to have longer duration of ECMO (230 hrs vs 201 hrs, p =0.005) and shorter time from intubation to ECMO cannulation (87 hrs vs 116 hrs, p =0.0033) when compared to non-survivors. Survivors were also noted to have higher pH, higher serum bicarbonate, higher saturations, and higher systolic, diastolic, and mean arterial pressures compared to non-survivors. Conclusions: These results suggest that early initiation of ECMO therapy for refractory sepsis is associated with better patient outcomes. ECMO is unlikely to recover patients once circulatory and metabolic collapse has developed.


Decompressive Craniectomy In Pediatric Traumatic Brain Injury: A Retrospective Cohort Study, Wan Xin Yew, Jan Hau Lee, Hongxing Dang, Sharon Yin Yee Low, Dianna Sri Dewi, Shu-Ling Chong Jan 2026

Decompressive Craniectomy In Pediatric Traumatic Brain Injury: A Retrospective Cohort Study, Wan Xin Yew, Jan Hau Lee, Hongxing Dang, Sharon Yin Yee Low, Dianna Sri Dewi, Shu-Ling Chong

Journal of Pediatric Intensive Care

Introduction: Decompressive craniectomy in children with traumatic brain injury (TBI) and refractory raised intracranial pressure (ICP) remains controversial. We aimed to describe the clinical and operative characteristics of children with moderate to severe TBI who underwent decompressive craniectomy, and compare outcomes with those who received medical therapy. Methods: We performed a retrospective observational cohort study on children < 16 years old with moderate to severe TBI (Glasgow Coma Scale, GCS ≤ 13 who underwent DC in 2 pediatric centers in Singapore and China between 2014 and 2017, and compared their outcomes to children who underwent medical treatment, among participating centers of the Pediatric Acute and Critical Care Medicine Asian Network (PACCMAN). We defined poor functional outcomes as moderate, severe disability, vegetative or comatose state, or mortality, using the Pediatric Cerebral Performance Category scale. We performed multivariable logistic regression to identify predictors for poor functional outcomes. Results: We analyzed 18 children who underwent DC with 214 who had medical therapy. A greater proportion of children with DC (14, 77.8%) experienced poor functional outcomes, compared to those with medical therapy (87, 41.2%, p=0.003). Children who underwent DC had fewer median 14-day ICU-free days (2.5 days, interquartile range, IQR 0.0 – 5.8 vs 8.0, IQR 0.0 – 11.0, p=0.033), median 28-day hospital-free days (0 days, IQR 0.0-3.5 vs 11.0, IQR 0.0 – 21.0, p=0.002) and 14-day mechanical ventilation-free days (6.5 days, IQR 0.0 – 12.3 vs 11.0, IQR 3.0 – 14.0, p=0.011). After accounting for age, sex, GCS, cerebral edema, uncal herniation, nonaccidental injury (NAI) and need for intubation, there was no significant association between decompressive craniectomy and poor functional outcomes (aOR 1.59, 95% CI 0.35 – 7.24, p = 0.548). Conclusions: Children with DC had severe injuries, prolonged hospital and ICU stays. Future studies are needed to understand the effectiveness of DC on children with TBI.


A Case Report Of Shwachman-Diamond Syndrome And Literature Review, Xinfeng Gao, Jizhong Wang Jan 2026

A Case Report Of Shwachman-Diamond Syndrome And Literature Review, Xinfeng Gao, Jizhong Wang

Journal of Pediatric Genetics

Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive genetic disorder, with approximately 90% of cases caused by pathogenic variants in the SBDS gene. This report describes a case of SDS diagnosed during the management of acute appendicitis. The patient, a male aged two years and 11 months, was admitted for emergency surgery for acute appendicitis. Subsequent evaluation revealed pancreatic exocrine dysfunction, pancreatic steatosis, abnormal liver function, and a history of recurrent diarrhea and neutropenia. Next-generation sequencing identified compound heterozygous SBDS variants: NM_016038.2:c.183_184TA>CT (p.Lys62*) and NM_016038.2:c.258+2T>C. This case highlights the importance of considering SDS in children presenting with recurrent …