Publications by authors named "Brian J Shayota"

16 Publications

  • Page 1 of 1

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.

J Child Neurol 2021 Apr 26:8830738211006507. Epub 2021 Apr 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopathy classically presents with developmental regression, petechiae, acrocyanosis, and chronic diarrhea. The neurologic phenotype includes hypotonia, spastic diplegia, ataxia, and developmental delay. As more patients with this condition are described, the neurologic phenotype continues to expand. Although strokelike episodes or metabolic strokes have been studied in other mitochondrial disorders, they have not been thoroughly reported in this disorder. Herein, we describe 3 patients with ethylmalonic encephalopathy who presented clinically with strokelike episodes and strokelike abnormalities on brain magnetic resonance imaging in the setting of acute illness, and the long-term sequelae with evolution into cystic changes in one of these subjects.
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http://dx.doi.org/10.1177/08830738211006507DOI Listing
April 2021

A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.

Front Immunol 2020 4;11:1929. Epub 2020 Sep 4.

Duke University Medical Center, Durham, NC, United States.

We report the clinical course of the first prenatally diagnosed cross-reactive immunologic material (CRIM)-negative infantile Pompe disease (IPD) patient [homozygous for c.2560C>T (p.Arg854X) variant in the gene] to undergo prophylactic immune tolerance induction (ITI) and enzyme replacement therapy (ERT) within the first 2 days of life. Both parents were found to be carriers of the c.2560C>T (p.Arg854X) variant through prenatal carrier screening. Fetal echocardiogram at 31 weeks of gestation showed left ventricular hypertrophy. An echocardiogram on the 1st day of life revealed marked biventricular hypertrophy. Physical exam was significant for macroglossia and hypotonia. A short course of Prophylactic ITI with rituximab, methotrexate, and intravenous immunoglobulin (IVIG) in conjunction with ERT at a dose of 20 mg/kg every other week was started on day 2 of life. The patient completed the ITI protocol safely and complete B-cell recovery, based on CD19 count, was noted by 3 months of age. The patient never developed anti-rhGAA IgG antibodies to ERT. Vaccinations were initiated at 9 months of age, with adequate response noted. Complete recovery of cardiac function and left ventricular mass was seen by 11 weeks of age. At 8 months of age, the patient developmentally measured at 75-90% on the Alberta Infant Motor Scale, walked at 11 months and continues to develop age-appropriately at 50 months of age based on the Early Learning Accomplishment Profile. ERT dosing was increased to 40 mg/kg every 2 weeks at 32 months of age and frequency increased to 40 mg/kg every week at 47 months of age. Patient continues to have undetectable antibody titers, most recently at age 50 months and urine Hex4 has remained normal. To our knowledge, this is the first report of successful early ERT and ITI in a prenatally diagnosed CRIM-negative IPD patient and the youngest IPD patient to receive ITI safely. With the addition of Pompe disease to the Recommended Uniform Screening Panel(RUSP) and its addition to multiple state newborn screening programs, our case highlights the benefits of early diagnosis and timely initiation of treatment in babies with Pompe disease, who represent the most severe end of the disease spectrum.
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http://dx.doi.org/10.3389/fimmu.2020.01929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7498628PMC
April 2021

Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.

Am J Med Genet A 2020 11 5;182(11):2632-2640. Epub 2020 Sep 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Robinow syndrome (RS) is a genetically heterogeneous skeletal dysplasia with recent reports suggesting an osteosclerotic form of the disease. We endeavored to investigate the full spectrum of skeletal anomalies in a genetically diverse cohort of RS patients with a focus on the bone micro-architecture. Seven individuals with molecularly confirmed RS, including four with DVL1 variants and single individuals with variants in WNT5A, ROR2, and GPC4 underwent a musculoskeletal focused physical examination, dual-energy X-ray absorptiometry (DEXA) scan, and high-resolution peripheral quantitative computed tomography (HR-pQCT). Skeletal examination revealed variability in limb shortening anomalies consistent with recent reports. DEXA scan measures revealed increased total body bone mineral density (BMD) (3/7), cranial BMD (5/7), and non-cranial BMD (1/7). Cranial osteosclerosis was only observed in DVL1-RS (4/4) and GPC4-RS (1/1) subjects and in one case was complicated by choanal atresia, bilateral conductive hearing loss, and cranial nerve III, VI, and VII palsy. HR-pQCT revealed a unique pattern of low cortical BMD, increased trabecular BMD, decreased number of trabeculations, and increased thickness of the trabeculations for the DVL1-RS subjects. The spectrum of skeletal anomalies including the micro-architecture of the bones observed in RS has considerable variability with some osteosclerosis genotype-phenotype correlations more frequent with DVL1 variants.
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http://dx.doi.org/10.1002/ajmg.a.61843DOI Listing
November 2020

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.

Mol Genet Metab 2020 Sep - Oct;131(1-2):147-154. Epub 2020 Aug 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA. Electronic address:

Inborn errors of metabolism (IEM) involving the non-oxidative pentose phosphate pathway (PPP) include the two relatively rare conditions, transketolase deficiency and transaldolase deficiency, both of which can be difficult to diagnosis given their non-specific clinical presentations. Current biochemical testing approaches require an index of suspicion to consider targeted urine polyol testing. To determine whether a broad-spectrum biochemical test could accurately identify a specific metabolic pattern defining IEMs of the non-oxidative PPP, we employed the use of clinical metabolomic profiling as an unbiased novel approach to diagnosis. Subjects with molecularly confirmed IEMs of the PPP were included in this study. Targeted quantitative analysis of polyols in urine and plasma samples was accomplished with chromatography and mass spectrometry. Semi-quantitative unbiased metabolomic analysis of urine and plasma samples was achieved by assessing small molecules via liquid chromatography and high-resolution mass spectrometry. Results from untargeted and targeted analyses were then compared and analyzed for diagnostic acuity. Two siblings with transketolase (TKT) deficiency and three unrelated individuals with transaldolase (TALDO) deficiency were identified for inclusion in the study. For both IEMs, targeted polyol testing and untargeted metabolomic testing on urine and/or plasma samples identified typical perturbations of the respective disorder. Additionally, untargeted metabolomic testing revealed elevations in other PPP metabolites not typically measured with targeted polyol testing, including ribonate, ribose, and erythronate for TKT deficiency and ribonate, erythronate, and sedoheptulose 7-phosphate in TALDO deficiency. Non-PPP alternations were also noted involving tryptophan, purine, and pyrimidine metabolism for both TKT and TALDO deficient patients. Targeted polyol testing and untargeted metabolomic testing methods were both able to identify specific biochemical patterns indicative of TKT and TALDO deficiency in both plasma and urine samples. In addition, untargeted metabolomics was able to identify novel biomarkers, thereby expanding the current knowledge of both conditions and providing further insight into potential underlying pathophysiological mechanisms. Furthermore, untargeted metabolomic testing offers the advantage of having a single effective biochemical screening test for identification of rare IEMs, like TKT and TALDO deficiencies, that may otherwise go undiagnosed due to their generally non-specific clinical presentations.
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http://dx.doi.org/10.1016/j.ymgme.2020.07.013DOI Listing
August 2020

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Mol Genet Metab 2020 05 6;130(1):58-64. Epub 2020 Mar 6.

Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA. Electronic address:

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal disorder characterized by progressive gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, skeletal myopathy, ophthalmoparesis, and ptosis. MNGIE stems from deficient thymidine phosphorylase activity (TP) leading to toxic elevations of plasma thymidine. Hematopoietic stem cell transplant (HSCT) restores TP activity and halts disease progression but has high transplant-related morbidity and mortality. Liver transplant (LT) was reported to restore TP activity in two adult MNGIE patients. We report successful LT in four additional MNGIE patients, including a pediatric patient. Our patients were diagnosed between ages 14 months and 36 years with elevated thymidine levels and biallelic pathogenic variants in TYMP. Two patients presented with progressive gastrointestinal dysmotility, and three demonstrated progressive peripheral neuropathy with two suffering limitations in ambulation. Two patients, including the child, had liver dysfunction and cirrhosis. Following LT, thymidine levels nearly normalized in all four patients and remained low for the duration of follow-up. Disease symptoms stabilized in all patients, with some manifesting improvements, including intestinal function. No patient died, and LT appeared to have a more favorable safety profile than HSCT, especially when liver disease is present. Follow-up studies will need to document the long-term impact of this new approach on disease outcome. Take Home Message: Liver transplantation is effective in stabilizing symptoms and nearly normalizing thymidine levels in patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and may have an improved safety profile over hematopoietic stem cell transplant.
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http://dx.doi.org/10.1016/j.ymgme.2020.03.001DOI Listing
May 2020

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Mol Genet Metab 2019 12 7;128(4):431-443. Epub 2019 Nov 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address:

Background: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic presentation in the newborn period includes metabolic acidosis, hyperlactatemia, and hyperammonemia that is precipitated by unrestricted protein intake. Implementation of newborn screening to diagnose and initiate early treatment has facilitated a reduction in neonatal mortality and improved survival. Despite early diagnosis and appropriate management, these individuals are prone to have recurrent episodes of metabolic acidosis and hyperammonemia resulting in frequent hospitalizations. Liver transplantation (LT) has been proposed as a treatment modality to reduce metabolic decompensations which are not controlled by medical management. Published reports on the outcome of LT show heterogeneous results regarding clinical and biochemical features in the post transplantation period. As a result, we evaluated the outcomes of LT in our institution and compared it to the previously published data.

Study Design/methods: We performed a retrospective chart review of nine individuals with PA or MMA who underwent LT and two individuals with MMA who underwent LT and kidney transplantation (KT). Data including number of hospitalizations, laboratory measures, cardiac and neurological outcomes, dietary protein intake, and growth parameters were collected.

Results: The median age of transplantation for subjects with MMA was 7.2 years with a median follow up of 4.3 years. The median age of transplantation for subjects with PA was 1.9 years with a median follow up of 5.4 years. The survival rate at 1 year and 5 years post-LT was 100%. Most of our subjects did not have any episodes of hyperammonemia or pancreatitis post-LT. There was significant reduction in plasma glycine post-LT. One subject developed mild elevation in ammonia post-LT on an unrestricted protein diet, suggesting that protein restriction may be indicated even after LT.

Conclusion: In a large single center study of LT in MMA and PA, we show that LT may reduce the incidence of metabolic decompensation. Moreover, our data suggest that LT may be associated with reduced number of hospitalizations and improved linear growth in individuals with PA and MMA.
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http://dx.doi.org/10.1016/j.ymgme.2019.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6898966PMC
December 2019

Characterization of the renal phenotype in RMND1-related mitochondrial disease.

Mol Genet Genomic Med 2019 12 30;7(12):e973. Epub 2019 Sep 30.

Texas Children's Hospital, Houston, TX, USA.

Background: The nuclear encoded gene RMND1 (Required for Meiotic Nuclear Division 1 homolog) has recently been linked to RMND1-related mitochondrial disease (RRMD). This autosomal recessive condition characteristically presents with an infantile-onset multisystem disease characterized by severe hypotonia, global developmental delay, failure to thrive, sensorineural hearing loss, and lactic acidosis. Renal disease, however, appears to be one of the more prominent features of RRMD, affecting patients at significantly higher numbers compared to other mitochondrial diseases. We report the clinical, histological, and molecular findings of four RRMD patients across three academic institutions with a focus on the renal manifestations.

Methods: Four patients were identified for the purpose of this study, all of whom had molecular confirmation at the time of inclusion, which included the common pathogenic variant c.713A>G (p.N238S) as well as the three rare variants: c.485delC (p.P162fs), c.533C>T (p.T178M), and c.1317 + 1G>C splice donor variant. Medical history and laboratory findings were collected from the medical records and medical providers.

Results: In this study, all four patients developed renal disease characterized as tubulopathy (3/4), renal tubular acidosis (2/4), interstitial nephritis (1/4), and/or end-stage renal disease (4/4) necessitating renal transplantation (2/4). Histological evaluation of renal biopsy specimens revealed generalized tubular atrophy and on electron microscopy, abundant mitochondria with pleomorphism and abnormal cristae.

Conclusion: Our experience with RRMD demonstrates a specific pattern of renal disease manifestations and clinical course. Patients are unlikely to respond to traditional chronic kidney disease (CKD) treatments, making early diagnosis and consideration of renal transplantation paramount to the management of RRMD.
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http://dx.doi.org/10.1002/mgg3.973DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900359PMC
December 2019

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

Am J Med Genet A 2019 12 13;179(12):2459-2468. Epub 2019 Sep 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Hartnup disease is an autosomal recessive condition characterized by neutral aminoaciduria and behavioral problems. It is caused by a loss of B AT1, a neutral amino acid transporter in the kidney and intestine. CLTRN encodes the protein collectrin that functions in the transportation and activation of B AT1 in the renal apical brush bordered epithelium. Collectrin deficient mice have severe aminoaciduria. However, the phenotype associated with collectrin deficiency in humans has not been reported. Here we report two patients, an 11-year-old male who is hemizygous for a small, interstitial deletion on Xp22.2 that encompasses CLTRN and a 22-year-old male with a deletion spanning exons 1 to 3 of CLTRN. Both of them present with neuropsychiatric phenotypes including autistic features, anxiety, depression, compulsions, and motor tics, as well as neutral aminoaciduria leading to a clinical diagnosis of Hartnup disease and treatment with niacin supplementation. Plasma amino acids were normal in both patients. One patient had low 5-hydroxyindoleacetic acid levels, a serotoninergic metabolite. We explored the expression of collectrin in the murine brain and found it to be particularly abundant in the hippocampus, brainstem, and cerebellum. We propose that collectrin deficiency in humans can be associated with aminoaciduria and a clinical picture similar to that seen in Hartnup disease. Further studies are needed to explore the role of collectrin deficiency in the neurological phenotypes.
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http://dx.doi.org/10.1002/ajmg.a.61357DOI Listing
December 2019

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.

Am J Med Genet A 2019 05 7;179(5):803-807. Epub 2019 Mar 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Short chain enoyl-CoA hydratase (SCEH) deficiency leads to a severe form of autosomal recessive Leigh syndrome with inevitable neurological decline and early mortality. SCEH is most notably involved in valine catabolism, a deficiency of which results in various metabolic alterations, including increased levels of the highly reactive metabolite 2-methacrylyl-CoA. With no proven treatments available to date, it has been speculated that patients may respond to a valine restricted diet and/or N-acetylcysteine supplementation, as suggested by early studies of a very similar inborn error of metabolism, 3-hydroxyisobutyryl-CoA hydrolase deficiency. We describe a patient with typical Leigh syndrome clinical findings and identified compound heterozygous variants in ECSH1. Valine-restricted diet was initiated at 6 months of age and N-acetylcysteine supplementation at 9 months with subsequent improvement in growth and slow progress in developmental milestones. However, at 15 months, the patient aspirated during a breakthrough seizure from which he did not recover and died soon after from related complications. This report highlights some of the challenges that remain in the management and treatment of SCEH deficiency, while demonstrating that a valine restricted diet and N-acetylcysteine can be safely administered with the potential for clinical improvement.
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http://dx.doi.org/10.1002/ajmg.a.61074DOI Listing
May 2019

Behavior and sleep disturbance in Smith-Magenis syndrome.

Curr Opin Psychiatry 2019 03;32(2):73-78

Department of Molecular and Human Genetics, Baylor College of Medicine.

Purpose Of Review: To provide an update of the most recent studies on Smith-Magenis syndrome (SMS) with a focus on the unique pattern of behavioral and sleep disturbances associated with the condition.

Recent Findings: The recent literature on SMS has focused on the characteristic severe behavioral and sleep disturbances. A better understanding of the underlying pathophysiological mechanisms and common clinical course has helped further characterize SMS, while much is left to be discovered in regard to effective treatment/management.

Summary: SMS is a difficult to manage genetic condition defined by pervasive and progressive behavioral and sleep disturbances with a unique pattern that can often be easily discerned from other neurodevelopmental disorders. Common behavioral features include maladaptive/self-injurious, aggressive, stereotypic, and the newly appreciated food seeking behaviors associated with SMS. In addition, there is a sleep disturbance defined by an altered circadian rhythm with frequent nighttime waking and daytime sleepiness, causing patients and families significant distress. Small studies have suggested some treatment/management approaches to the behavioral and sleep disturbances, however, much remains to be discovered.
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http://dx.doi.org/10.1097/YCO.0000000000000474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362978PMC
March 2019

A historical perspective: Bernhard von Langenbeck German surgeon (1810-1887).

Clin Anat 2014 Oct 11;27(7):972-5. Epub 2014 Jul 11.

St. George's University School of Medicine, St. George's, Grenada, West Indies.

Bernhard von Langenbeck is undeniably one of the world's greatest surgeons and inventors. The influence which he exerted upon the practice of surgery, as apparent by the numerous surgical tools and 21 operations credited to his name, represents the notable contributions of this amazing man. Despite the tools and techniques which bear his name, the establishment of a surgical journal, and his role in co-founding the German Surgical Society, many attest that Bernhard von Langenbeck's greatest contribution to the professional field was the vast knowledge he imparted on his pupils. Commonly credited with training nearly every celebrated surgical operator of his time, von Langenbeck merits posthumous acknowledgement for his vast contributions to the field of medicine and surgery.
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http://dx.doi.org/10.1002/ca.22433DOI Listing
October 2014

MeSS: A novel prognostic scale specific for pediatric well-differentiated thyroid cancer: a population-based, SEER outcomes study.

Surgery 2013 Sep;154(3):429-35

Department of Surgery, Saint Barnabas Medical Center, Livingston, NJ 07039, USA.

Background: High-risk prognostic factors for adults with well-differentiated thyroid cancer (WDTC) have been well established, but the same is not true for pediatric patients. This study sought to determine whether validated adult prognostic systems are applicable to pediatric patients and to develop a novel prognostic scale that may better reflect outcomes in pediatric subgroups.

Methods: We queried 62,007 cases of WDTC from the Surveillance, Epidemiology, and End Results (SEER) database (1973-2009) to identify 895 patients <20 years of age with WDTC. Data abstracted included age, gender, race, histology type, primary tumor size, cancer stage, and mortality. Odds ratio and 95% confidence intervals were set and data were analyzed with SAS version 9.2.

Results: Among 895 pediatric WDTC patients, the overall cause-specific mortality was 0.8%. The presence of distant metastasis was associated with the worst prognosis (P = .0045) followed by larger primary tumor size (P = .0135) and male gender (P = .0162). When classified into low-, moderate-, and high-risk categories according to the distant metastasis (Me), larger primary tumor size (S), and male sex (S) (MeSS) algorithm, mortality rates were 0%, 2.7%, and 23%, respectively.

Conclusion: Commonly used prognostic indices for WDTC in adults do not reliably predict poor outcomes among pediatric patients. Rather, a system based on MeSS is more applicable to pediatric patients. Patients who exhibit a high MeSS score have a significantly worse overall survival than those who do not express any MeSS characteristics.
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http://dx.doi.org/10.1016/j.surg.2013.04.047DOI Listing
September 2013

Abraham Colles and his contributions to anatomy.

Clin Anat 2014 Jul 20;27(5):670-4. Epub 2013 Aug 20.

Department of Anatomical Sciences, School of Medicine, St. George's University, Grenada.

Abraham Colles is known among the medical community for his detailed description of Colles' fracture, one of the most common occurring skeletal injuries. It is remarkable that something as seemingly simple as the diagnosis of Colles' fracture had not been established until nearly 200 years ago. While that may have been his most well known accomplishment, Colles made several other contributions to medicine across multiple fields of practice. In the field of anatomy, he is also credited for his discovery and description of Colles' fascia and Colles' ligament. Less commonly known, however, are his clinical observations and offered treatment regimens for syphilis, as well as his achievement in performing the first surgery for axillary artery aneurysm. The current paper will review the life and contributions of this early surgeon and anatomist.
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http://dx.doi.org/10.1002/ca.22258DOI Listing
July 2014

Benjamin Alcock (1801-?) and his canal.

Clin Anat 2013 Sep 9;26(6):662-6. Epub 2012 Apr 9.

Department of Anatomical Sciences, St. George's University, Grenada.

Benjamin Alcock (1801-?) was a prominent anatomist from Ireland who is remembered most for his description of the pudendal canal. He was privileged to train under the great Irish anatomist, Abraham Colles. Following his training and several early teaching engagements, he was appointed as the first Professor of Anatomy and Physiology at Queen's College, Cork. He became a Fellow of the Royal College of Surgeons in Ireland. After several years of teaching at Queen's College, Alcock was forced to resign after a dispute over the Anatomy Act of 1832, during which he conveyed his disapproval of participation in the procurement of corpses for the school. Several years after his resignation, he left for the United States and removed himself from the view of the profession. His anatomical contributions were published in The Cyclopaedia of Anatomy and Physiology. The description he gave of the sheath enclosing the pudendal nerve and internal pudendal vessels is his most famous contribution to the literature. He is remembered eponymously for Alcock's canal. This article's intent is to clearly and concisely depict the life and contribution of Benjamin Alcock.
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http://dx.doi.org/10.1002/ca.22080DOI Listing
September 2013

Peritoneal bands: a review of anatomical distribution and clinical implications.

Am Surg 2012 Apr;78(4):377-84

St. George's University School of Medicine, St. George's, Grenada, West Indies.

The complexity of embryological development of the gastrointestinal tract and mesentery provides a platform for the formation of a wide variety of variant veils, folds, and membranes, collectively termed peritoneal bands. These structures, which represent anatomically unabsorbed portions of the omentum and mesentery, although often benign, have the potential to cause clinically significant manifestations in both the neonate and adult. Although these deviant structures may be identified over a broad range of the abdominal cavity, they are most commonly identified in the regions of the duodenum, duodenojejunal flexure, ileocecal junction, and ascending colon. As a result of the diverse location of these variant structures, clinical manifestations are highly variable, ranging from acute presentations of intestinal necrosis as a result of strangulated midgut volvulus to chronic, vague abdominal pain. This article seeks to highlight the importance of a thorough anatomical understanding of the distribution of the various abnormal peritoneal folds, bands, and ligaments, which may result from aberrations in embryonic gastrointestinal development and their respective clinical implications. Moreover, to advance the knowledge of peritoneal bands, this article discusses the appropriate diagnostic studies and treatment interventions required for these variant structures.
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April 2012

Associated disorders of Chiari Type I malformations: a review.

Neurosurg Focus 2011 Sep;31(3):E3

Department of Anatomical Sciences, St. George's University, Grenada.

A single pathophysiological mechanism of Chiari Type I malformations (CM-I) has been a topic of debate. To help better understand CM-I, the authors review disorders known to be associated with CM-I. The primary methodology found among most of them is deformation of the posterior cranial fossa, usually with subsequent decrease in volume. Other mechanisms exist as well, which can be categorized as either congenital or acquired. In understanding the relationship of such disorders with CM-I, we may gain further insight into the process by which cerebellar tonsillar herniation occurs. Some of these pathologies appear to be true associations, but many appear to be spurious.
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http://dx.doi.org/10.3171/2011.6.FOCUS11112DOI Listing
September 2011