Gardner Syndrome

OBJECTIVES: The primary objectives were to examine utilization of the Hybrid vs. the Norwood procedure for patients with hypoplastic left heart syndrome (HLHS) or variants and the impact on hospital mortality. The Hybrid procedure was first used at our institution in 2004. METHODS: Review of all subjects undergoing the Norwood or Hybrid procedure between 1/1/1984 and 12/31/2022. The study period was divided into 8 eras: era 1, 1984 to 1988; era 2, 1989 to 1993; era 3, 1994 to 1998; era 4, 1999 to 2003; era 5, 2004 to 2008; era 6, 2009 to 2014; era 7, 2015 to 2018; and era 8, 2019 to 2022...

There are no validated diagnostic criteria for traumatic encephalopathy syndrome (TES). During the early and middle 20th century, TES was described as a clinical condition that was experienced by some high-exposure boxers-and it was believed to reflect chronic traumatic brain injury. Consensus criteria for the diagnosis of TES were published in 2021. We applied the consensus criteria for TES retrospectively to cases of chronic brain damage in boxers described in articles published in the 20th century that were obtained from narrative and systematic reviews...

Gardner's syndrome with the complete manifestation of colonic and extracolonic features is uncommon. Therefore, every clinician should view extracolonic features with a high index of suspicion. This may be key to early diagnosis, definitive management in these patients and importantly, helps prevent malignant transformation of existing colonic polyps.

Supernumerary teeth are presented in any region of the dental arches as additional teeth to the standard set of teeth and may present in either the primary or secondary dentition. They can be found as single or multiple teeth on one or both sides of the dental arches, with a preference for the premaxilla. The supernumerary teeth might cause aesthetic and/or functional problems, mainly if situated in the maxillary anterior region. Multiple supernumerary teeth are often related to specific conditions or in syndromic patients, i...

AIMS: We applied the 2021 consensus criteria for both chronic traumatic encephalopathy neuropathological change and traumatic encephalopathy syndrome in a small case series of six former elite-level Australian rugby code players. METHODS: Neuropathological assessment of these cases was carried out at the Sydney and Victorian Brain Banks. Clinical data were collected via clinical interviews and health questionnaires completed by the participants and/or their next of kin, and neuropsychological testing was conducted with participants who were capable of completing this testing...

BACKGROUND AND OBJECTIVES: Cavum septum pellucidum (CSP) is a common but nonspecific MRI finding in individuals with prior head trauma. The type and extent of head trauma related to CSP, CSP features specific to head trauma, and the impact of brain atrophy on CSP are unknown. We evaluated CSP cross-sectionally and longitudinally in healthy and clinically impaired older adults who underwent detailed lifetime head trauma characterization. METHODS: This is an observational cohort study of University of California, San Francisco Memory and Aging Center participants (healthy controls [HCs], those with Alzheimer disease or related dementias [ADRDs], subset with traumatic encephalopathy syndrome [TES])...

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Supernumerary molars are an uncommon anomaly that can occur in the maxillofacial complex, referring to the presence of additional teeth in the dental arch. This condition is often associated with several rare disorders such as Gardner's syndrome, Cleidocranial dysplasia, Ehler-Danlos syndrome, and Down syndrome However, it is seldom observed in non-syndromic associations. They occur more frequently in the maxilla than in the mandible. This research represents a unique case study that explores unerupted paramolar and parapremolar follicles coexisting in both the maxillary and mandibular arches of a 17-year-old male patient...

PURPOSE: Previous investigations assessing the incidence of amyloidosis detected with biopsy during carpal tunnel release (CTR) have focused on open CTR (OCTR). Prior authors have suggested that biopsy may be more technically challenging during endoscopic carpal tunnel release (ECTR). Our purpose was to compare differences in the incidence of amyloid deposition detected during ECTR versus OCTR. METHODS: We reviewed all primary ECTR and OCTR during which a biopsy for amyloid was obtained between February 2022 and June 2023...

INTRODUCTION: Gardner Syndrome (GS) is a variant of Familial Adenomatous Polyposis (FAP). FAP is characterized by several precancerous adenomatous intestinal polyps while GS has additional distinct extraintestinal features such as congenital hypertrophy of retinal epithelium (CHRPE), which we describe here. PRESENTATION OF CASE: 42-year-old male with GS presenting with flashes and floaters observed to have CHRPE-like lesions characteristic of GS. DISCUSSION: Subtle CHRPE findings differentiate pathological, described in the present case, from non-pathological etiologies and may guide further management...

BACKGROUND: Granular cell tumors occur in all ages and many anatomic sites. In the craniofacial region, they typically arise in soft tissue, not bone. We present a primary intra-osseous granular cell tumor of the sphenoid and central skull base arising in a 12- year- old girl. CASE REPORT: A 12-year-old female with sickle cell disease and Jeavons syndrome presented with seizures. Imaging and partial resection revealed an expansile benign granular cell tumor (GCT) involving the sphenoid body, pterygoid process, and central skull base...

We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with intellectual disability as the core phenotype. To study the molecular pathology of this essential eukaryotic gene, we generated a mouse model based on a hypomorphic Thoc2 exon 37-38 deletion variant of a patient with ID, speech delay, hypotonia, and microcephaly. The Thoc2 exon 37-38 deletion male (Thoc2Δ/Y ) mice recapitulate the core phenotypes of THOC2 syndrome including smaller size and weight, and significant deficits in spatial learning, working memory and sensorimotor functions...

Microglia are implicated as primarily detrimental in pain models; however, they exist across a continuum of states that contribute to homeostasis or pathology depending on timing and context. To clarify the specific contribution of microglia to pain progression, we take advantage of a temporally controlled transgenic approach to transiently deplete microglia. Unexpectedly, we observe complete resolution of pain coinciding with microglial repopulation rather than depletion. We find that repopulated mouse spinal cord microglia are morphologically distinct from control microglia and exhibit a unique transcriptome...

PURPOSE: The purpose of this quality improvement (QI) project was to develop and implement an assessment tool to identify a patient's specific needs due to autism spectrum disorder (ASD). The use of an individualized plan of care related to sensory and behavioral differences correlates with improved experiences in the perioperative setting for patients with ASD. DESIGN: Mixed methods, pre-post survey, retrospective data comparison. METHODS: Metrics planned to evaluate intervention outcomes included: (1) Comparison of pre and postsurvey data obtained from perioperative staff members following ASD education, (2) Evaluation of the number of behavior response team calls made compared to retrospective data, and (3) Survey response data from families assessing the perceived experience of perioperative stay...

BACKGROUND: Infants with hypoplastic left heart syndrome (HLHS) or a variant are at risk of ventricular dysfunction (VD) and atrioventricular valve regurgitation (AVVR) prior to superior cavopulmonary connection (SCPC). Although the impact of these complications in isolation has been described, their effect in combination on attrition is poorly defined. METHODS: A retrospective observational study of patients with HLHS or variants undergoing a Norwood procedure between 2008 and 2020 at a single center was performed...

AIM: WHIM (warts, hypogammaglobulinaemia, infections and myelokathexis) syndrome is a rare combined primary immunodeficiency disease caused by gain-of-function (GOF) mutations in the chemokine receptor CXCR4 and includes severe neutropenia as a common feature. Neutropenia is a known risk factor for periodontitis; however, a detailed periodontal evaluation of a WHIM syndrome cohort is lacking. This study aimed to establish the evidence base for the periodontal status of patients with WHIM syndrome...

BACKGROUND: Torpedo maculopathy (TM) is a rare, congenital condition characterized by an oval-shaped, chorioretinal lesion in the temporal macula of unknown etiology. To our knowledge, the longest reported follow-up of TM is 5 years. Herein we report 10 years of follow-up on two patients with TM to further characterize the long-term natural history of the condition. CASE REPORTS: Two patients with torpedo maculopathy were examined at baseline and then again at 5 years and 10 years from baseline...

BACKGROUND AND AIMS: Chronic pancreatitis (CP) causes an abdominal pain syndrome associated with poor quality of life (QOL). We conducted a clinical trial to further investigate the efficacy and safety of camostat, an oral serine protease inhibitor, which has been used to alleviate pain in CP. METHODS: This was a double-blind randomized controlled trial that enrolled adults with CP with a baseline average daily worst pain score ≥4 using the numeric rating system (NRS)...

Gardner syndrome (GS) is a specific form of familial adenomatous polyposis (FAP), which manifests as colorectal polyps, multiple osteomas and soft tissue tumors, and in the oral cavity as osteomas of the jaws, odontomas, and abnormal tooth counts. The underlying cause of GS is attributed to mutations in the APC gene. Mutations in this gene disrupt the normal functioning of the protein and lead to the development of GS. To further investigate GS, a family affected by the syndrome was selected from Dongguan, Guangdong Province...

Gardner syndrome (GS) is a rare autosomal dominant disorder that can present with craniomaxillofacial abnormalities. The identification of osteomas or craniomaxillofacial abnormalities can therefore serve as a marker of this condition, facilitating early referral and diagnosis. A 17-year-old female with GS was referred for the management of severe limited mouth opening, causing a major problem for routine endoscopy to monitor the gastrointestinal alterations of GS. Clinical and radiological evaluations showed multiple osteomas in the mandibular angle, condylar and coronoid regions bilaterally and maximum mouth opening of 8 mm...