Gender Dysphoria in the Pediatric Population: Initial Experience of a Transdisciplinary Group

Abstract Introduction Although there is an increasing experience in the management of transgender individuals, this has not been thoroughly explored in children. The need to establish a comprehensive and transdisciplinary management is of critical importance. In order to solve this issue, we want to report the results of a cohort of individuals with gender dysphoria (GD) seen by our transdisciplinary group from a social and clinical and health access perspective. Methods A 10-year retrospective case series of all patients that had been seen by our transdisciplinary team was reviewed. The main demographic characteristics were described, as well as impact variables in terms of diagnosis and treatment of these individuals. A social description of each individual was described. Frequency, distribution, and central tendency measures were evaluated for data presentation. IBM SPSS Statistics for Windows, version 24.0 (IBM Corp, Armonk, NY) software was used. Results Four cases of GD were included. Three had male to female dysphoria and one female to male. The median reported age of GD awareness was 6 years old (between 4 and 8 years old), and the median time between GD awareness and the 1st medical evaluation was 7 years for all individuals. The median age at gender role expression was 12 years old (between 10 and 14 years old). All patients had already assumed their experienced gender role before the 1st evaluation by our group. The median age at the 1st evaluation by our group was 13 years old (between 10 and 16 years old); three of the patients were evaluated after initiation of puberty. In the present study, individuals with GD demonstrated having health care access barriers for their transition process. Referral times are high, and individuals with GD are cared after pubertal development, which is related to suboptimal outcomes. The spectrum of GD is broad, and management must be individualized according to expectations. Conclusion Individuals with GD face multiple access barriers that limit their possibility of being seen by a transdisciplinary team. This reflects in longer waiting times that negatively impact medical management. Gender dysphoria is a wide spectrum, and individuals should be evaluated individually by a transdisciplinary team.

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Laryngeal Web in the Pediatric Population: Evaluation and Management

Otolaryngology ◽

10.1177/0194599819893985 ◽

2019 ◽

Vol 162 (2) ◽

pp. 234-240 ◽

Cited By ~ 1

Author(s):

Claire M. Lawlor ◽

Natasha D. Dombrowski ◽

Roger C. Nuss ◽

Reza Rahbar ◽

Sukgi S. Choi

Keyword(s):

Pediatric Population ◽

Care Center ◽

Tertiary Care ◽

Case Series ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

Retrospective Case ◽

Presenting Symptoms ◽

Subglottic Extension ◽

Type 3

Objective To discuss the presentation, evaluation, and management of pediatric laryngeal web. Study Design Retrospective case series. Setting Single tertiary care center. Subjects All patients with laryngeal web at Boston Children’s Hospital in the past 22 years. Methods No exclusion criteria. Charts mined for age at presentation, presenting symptoms, degree/location of web, associated syndromes, number/type of surgical procedures, and postoperative outcomes. Results Thirty-seven patients were included (13 male, 24 female). Average age at diagnosis was 3.7 years (0-19.5 years). Mean follow-up was 4.4 years (range, 0-16.4 years). There were 26 congenital webs (70.2%) and 11 acquired webs (29.8%). Presenting symptoms were vocal (29 patients, 78.4%) and respiratory (22 patients, 60%). Underlying syndromes or synchronous airway lesions included the following: premature (n = 5), congenital heart disease (n = 18), subglottic stenosis (n = 5), 22q11.2 deletion syndrome (n = 10), and recurrent respiratory papillomatosis (n = 4). There were 20 type 1 webs, 6 type 2 webs, 8 type 3 webs, and 3 type 4 webs; 10 had subglottic extension of the laryngeal web. Twelve patients were managed conservatively with observation. Eighty-four interventions were performed: 18 open and 66 endoscopic (sharp division, 32; dilation, 33; mitomycin C, 14; laser, 5; keel, 6; triamcinolone injection, 8; stent, 15; removal of granulation tissue, 5). Tracheotomy was required in 11 patients, and 5 patients were decannulated. Voice improved in 12 patients, with respiratory symptoms in 12 patients. Web recurred in 17 patients. One patient died due to airway complications. Conclusions Pediatric laryngeal web is an uncommon but challenging lesion. Patients need to be evaluated for comorbid syndromes and synchronous airway lesions. Management includes open and endoscopic procedures. Procedures should be tailored to the child’s presentation.

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Osteopathic interventions via telehealth in a pediatric population: a retrospective case series

Journal of Osteopathic Medicine ◽

10.1515/jom-2021-0124 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Joanna L. Kramer ◽

Kathleen De Asis

Keyword(s):

Pain Score ◽

Pediatric Population ◽

Healthcare Delivery ◽

Case Series ◽

P Value ◽

Retrospective Case ◽

Unique Challenge ◽

Pain Scores ◽

Retrospective Case Series ◽

Chief Complaints

Abstract Context Healthcare delivery was dramatically affected during the coronavirus disease 2019 (COVID-19) pandemic. Many outpatient visits were cancelled or forgone for fear of exposure to the virus, allowing telemedicine to take on a much larger role in healthcare. The delivery of manual therapies, such as osteopathic manipulative treatment (OMT), via telehealth posed a unique challenge as these are typically provided in-person by a trained osteopathic physician. This study provides a description of one osteopathic pediatrician’s experience in delivering osteopathic interventions to pediatric patients via telehealth. To our knowledge, these techniques have not previously been described in the literature. Objectives To detail the experience of one osteopathic pediatrician’s experience in delivering osteopathic interventions via telehealth. Methods Patients were offered the option of converting their existing OMT appointment to a telehealth visit. Prior to the appointment, instructions were emailed to the patient’s parent or guardian along with a voluntary survey to provide feedback. Thirty-minute telehealth visits were conducted during which the provider gave verbal and visual instructions to a parent or guardian over a video platform to guide them in providing treatment to the patient based on osteopathic principles. Patients aged 3 and older rated their pain before and after the appointment using the Wong-Baker FACES scale. Deidentified patient demographics, chief complaints, treatments, anatomic locations, and pain scores were recorded in a REDcap database. Descriptive statistics were analyzed and paired samples t-tests were used with a p-value of <0.05 used to determine significance. Results Eighteen patients ranging from 6 months to 19 years of age were treated utilizing osteopathic interventions via telehealth during 54 distinct visits. The most common chief complaints treated were back (n=31; 26.3%) and neck (n=28; 23.7%) pain. The most common osteopathic techniques upon which instruction was based were inhibition (n=131; 29.7%) soft tissue (n=127; 28.8%) and counterstrain (n=78; 17.7%). The average post-treatment pain score (2.57) was significantly lower than the average pre-treatment pain score (6.77) p<0.01. No serious complications were observed. Conclusions In our small retrospective case series, osteopathic interventions via telehealth resulted in decreased average pain scores following treatment while minimizing risk of viral exposure and transmission. Further study is needed to determine if such treatment methods could be effective on a larger scale when distance or illness preclude an in-person OMT visit.

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Clinic-based ultra-wide field retinal imaging in a pediatric population

International Journal of Retina and Vitreous ◽

10.1186/s40942-019-0171-1 ◽

2019 ◽

Vol 5 (S1) ◽

Cited By ~ 3

Author(s):

Nikisha Kothari ◽

Stacy Pineles ◽

David Sarraf ◽

Federico Velez ◽

Gad Heilweil ◽

...

Keyword(s):

Pediatric Population ◽

Case Series ◽

Retinal Imaging ◽

Field Of View ◽

Fundus Photography ◽

Arterial Phase ◽

Wide Field ◽

Retrospective Case ◽

Additional Information ◽

Common Diagnosis

Abstract Background Pediatric retinal disorders, although uncommon, can be challenging to assess in the clinic setting and often requires an exam under anesthesia. The purpose of our study was to evaluate the use of ultra-wide field retinal imaging in children without sedation in an outpatient clinic. Methods We performed a retrospective case series of patients 18 years or younger who received ultra-wide field imaging over a one year period. The age, gender, and clinical course were documented. Color fundus and red-free images were reviewed to assess field of view. Ultra-wide field autofluorescence (UWF-FAF) was evaluated for abnormal autofluorescence patterns and ultra-wide field fluorescein angiography (UWF-FA) was assessed for angiographic phase and field of view. Results A total of 107 eyes of 55 patients with a mean age of 11.1 years (SD 3.7 years, range 3–18 years) were evaluated. Twenty-seven (49%) patients were male. The most common diagnosis was retinopathy of prematurity (7 of 55 patients, 12.7%) followed by trauma (7.4%), Coats disease (7.4%), and rhegmatogenous retinal detachment (7.4%). The number of quadrants visualized anterior to the equator correlated with patient age (r = 0.4, p < 0.01). On UWF-FA, 6 of 14 patients (43%) had images of the arterial phase captured and 14 of 14 patients (100%) had images of the venous phase or later captured. Conclusions We demonstrated that UWF imaging is obtainable in children as young as 3 years old without sedation. UWF fundus photography, UWF-FAF and UWF-FA were useful clinical adjuvants to examination and provide additional information for documenting and monitoring pediatric retinal diseases.

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Dural venous sinus stenting for treatment of pediatric idiopathic intracranial hypertension

Journal of NeuroInterventional Surgery ◽

10.1136/neurintsurg-2020-016183 ◽

2020 ◽

pp. neurintsurg-2020-016183

Author(s):

Katriel E Lee ◽

Aqib Zehri ◽

Sauson Soldozy ◽

Hasan Syed ◽

Joshua S Catapano ◽

...

Keyword(s):

Intracranial Hypertension ◽

Idiopathic Intracranial Hypertension ◽

Pediatric Patients ◽

Pediatric Population ◽

Case Series ◽

Venous Sinus ◽

Retrospective Case ◽

Safety And Efficacy ◽

Dural Venous Sinus

BackgroundDural venous sinus stenting (VSS) is an effective treatment for idiopathic intracranial hypertension (IIH) in adult patients. There are no published series to date evaluating safety and efficacy of VSS in pediatric patients.ObjectiveTo report on procedural device selection and technique as well as safety and efficacy of VSS for pediatric patients with medically refractory IIH due to underlying venous sinus stenosis.MethodsA multi-institutional retrospective case series identified patients with medically refractory IIH aged less than 18 years who underwent VSS.Results14 patients were identified at four participating centers. Patient ages ranged from 10 to 17 years, and 10 patients (71.4%) were female. Mean body mass index was 25.7 kg/m2 (range 15.8–34.6 kg/m2). Stenting was performed under general endotracheal anesthesia in all except two patients. The average trans-stenotic gradient during diagnostic venography was 10.6 mm Hg. Patients had stents placed in the superior sagittal sinus, transverse sinus, sigmoid sinus, occipital sinus, and a combination. Average follow-up was 1.7 years after stenting. Six patients out of 10 (60%) had reduced medication dosing, 12 of 14 patients (85.7%) had improvements in headaches, two patients (100%) with pre-stent tinnitus had resolution of symptoms, and four (80%) of five patients with papilledema had improvement on follow-up ophthalmological examinations. Two patients (14.3%) developed postprocedural groin hematomas, one patient (7.1%) developed a groin pseudoaneurysm, and one patient (7.1%) had postprocedural groin bleeding. No other procedural complications occurred. Four patients (28.6%) required further surgical treatment (cerebrospinal shunting and/or stenting) after their first stenting procedure.ConclusionsThis series suggests that VSS is feasible in a pediatric population with IIH and has a low complication rate and good clinical outcomes.

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Ocular manifestations of ectodermal dysplasia

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01824-2 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Daphna Landau Prat ◽

William R. Katowitz ◽

Alanna Strong ◽

James A. Katowitz

Keyword(s):

Pediatric Patients ◽

Ectodermal Dysplasia ◽

Pediatric Population ◽

Case Series ◽

Sweat Glands ◽

Retrospective Case ◽

Ocular Manifestations ◽

Ectodermal Dysplasias ◽

New Finding ◽

Lacrimal Drainage

Abstract Purpose The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED. Methods Retrospective case series including consecutive ED subjects who were treated in the ophthalmology department at the Children’s Hospital of Philadelphia over a 12-year period (2009–2020). Main Outcome Measures were ocular and ocular adnexal abnormalities. Results Thirty subjects were included: 20 males (67%), mean age of 4.5 years (range 0.3–18). Patients with different subtypes were included, with the hypohidrotic ED and ectrodactyly-ectodermal dysplasia-clefting variants being most prevalent. Most common findings were: lacrimal drainage obstruction in 12 (40%) including punctal agenesis in 10 (33%), refractive errors in 13 (43%) and amblyopia in 6 (20%). A new finding of eyelid ptosis or eyelash ptosis was demonstrated in 11 subjects (37%), mostly associated with TP63 or EDA1 genes variants. Conclusion Ectodermal dysplasias are associated with various ocular pathologies and amblyopia in the pediatric population. We report a possible genetic association between lash ptosis and EDA1 gene, and eyelid ptosis and TP63 or EDA1 genes variants.

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The use of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis post-liver transplant: a case series

10.22541/au.162429396.62065467/v1 ◽

2021 ◽

Author(s):

Hunter Ragan ◽

Elizabeth Autry ◽

Taryn Bomersback ◽

Jennifer Hewlett ◽

Lauren Kormelink ◽

...

Keyword(s):

Cystic Fibrosis ◽

Liver Transplantation ◽

Wide Spectrum ◽

Case Series ◽

Retrospective Case ◽

Clinical Benefits ◽

Tacrolimus Trough Concentration ◽

Life Improvement ◽

Immunosuppressant Medications ◽

Related Liver Disease

Introduction Cystic fibrosis (CF) related liver disease (CFLD) manifests as a wide spectrum of hepatobiliary disease and can progress to need liver transplantation. Elexacaftor/tezacaftor/ivacaftor (elx/tez/iva) is a cystic fibrosis transmembrane conductance regulator (CFTR) modulator which has superior efficacy compared to previously approved modulators. Use of elx/tez/iva, should be approached with caution in individuals with CFLD or following liver transplantation due to possible increases in LFTs and drug-drug interactions with several immunosuppressant medications. Objective The purpose of this case series was to explore if the use of elx/tez/iva is safe and tolerable in patients with CF post-liver transplantation. Methods A retrospective case series including patients prescribed elx/tez/iva following liver transplantation and an immunosuppressive regimen consisting of drug therapy metabolized by P-glycoprotein was completed. Results Ten patients at six CF centers with a median age of 22.1 years (range 14-43.4 years) and median time from transplant of 6.9 years (range 0.6-22 years) were included. Most patients (8, 80%) received a reduced or full dose of elx/tez/iva for a mean duration of 10.4 months (range 7-12 months). Fluctuations in LFTs occurred in all patients (10, 100%) and led to therapy discontinuation in two patients (20%). Elx/tez/iva initiation resulted in elevations in tacrolimus trough concentration in 7 patients (70%). Most patients who tolerated elx/tez/iva had symptomatic and quality of life improvement, increased body-mass-index, and maintained or improved lung function. Conclusion Initiation of elx/tez/iva in patients with CF who received a liver transplantation may be safe with clinical benefits.

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Pediatric Nasal Lobular Capillary Hemangioma

Case Reports in Medicine ◽

10.1155/2012/769630 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 2

Author(s):

Jordan M. Virbalas ◽

John P. Bent ◽

Sanjay R. Parikh

Keyword(s):

Nasal Obstruction ◽

Pediatric Population ◽

Case Series ◽

Epidemiological Data ◽

Pyogenic Granuloma ◽

Capillary Hemangioma ◽

Retrospective Case ◽

Lobular Capillary Hemangioma ◽

Image Guided ◽

Recurrent Epistaxis

Background.LCH is a benign vascular growth of the skin and mucous membranes commonly affecting the head and neck. Since it was first described in the nineteenth century, this entity has been variously known as “human botryomycosis” and “pyogenic granuloma.” The shifting nomenclature reflects an evolving understanding of the underlying pathogenesis. We review the histopathology of and current epidemiological data pertaining to LCH which suggests that the development of these lesions may involve a hyperactive inflammatory response influenced by endocrine factors. We report two new cases of pediatric lobular capillary hemangioma (LCH) of the nasal cavity and review current theories regarding the etiology, diagnosis, and treatment of nasal LCH.Methods. Retrospective case series.Case Series. Two adolescent females presented with symptoms of recurrent epistaxis, nasal obstruction, and epiphora. Both patients underwent computed tomography imaging and biopsy of their intranasal mass. The tumors were excised using image-guided transnasal endoscopic technique. Seven other cases of nasal LCH have been reported to date in the pediatric population.Conclusion. Nasal LCH is a rare cause of an intranasal mass and is associated with unilateral epistaxis, nasal obstruction, and epiphora. We advocate for image-guided endoscopic excision of LCH in the adolescent population.

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Neurologic Features Associated With SARS-CoV-2 Infection in Children: A Case Series Report

Journal of Child Neurology ◽

10.1177/0883073821989164 ◽

2021 ◽

pp. 088307382198916

Author(s):

Francisca Sandoval ◽

Katherine Julio ◽

Gastón Méndez ◽

Carolina Valderas ◽

Alejandra C. Echeverría ◽

...

Keyword(s):

Pediatric Population ◽

Case Series ◽

Neurologic Manifestations ◽

Retrospective Case ◽

Neurologic Symptoms ◽

Clinical Presentations ◽

Wide Range ◽

Neurophysiological Studies ◽

Case Series Report ◽

Series Report

Introduction: Although multiple neurologic manifestations associated with SARS-CoV-2 infection have been described in adults, there is little information about those presented in children. Here, we described neurologic manifestations associated with COVID-19 in the pediatric population. Methods: Retrospective case series report. We included patients younger than 18 years, admitted with confirmed SARS-CoV-2 infection and neurologic manifestations at our hospital in Santiago, Chile. Demographics, clinical presentations, laboratory results, radiologic and neurophysiological studies, treatment, and outcome features were described. Cases were described based on whether they presented with predominantly central or peripheral neurologic involvement. Results: Thirteen of 90 (14.4%) patients admitted with confirmed infection presented with new-onset neurologic symptoms and 4 patients showed epilepsy exacerbation. Neurologic manifestations ranged from mild (headache, muscle weakness, anosmia, ageusia), to severe (status epilepticus, Guillain-Barré syndrome, encephalopathy, demyelinating events). Conclusions: We found a wide range of neurologic manifestations in children with confirmed SARS-CoV-2 infection. In general, neurologic symptoms were resolved as the systemic presentation subsided. It is essential to recognize and report the main neurologic manifestations related to this new infectious disease in the pediatric population. More evidence is needed to establish the specific causality of nervous system involvement.

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Carbon dioxide laser for corpus callosotomy in the pediatric population

Journal of Neurosurgery Pediatrics ◽

10.3171/2014.10.peds13498 ◽

2015 ◽

Vol 15 (3) ◽

pp. 321-327 ◽

Cited By ~ 16

Author(s):

Omar Choudhri ◽

Robert M. Lober ◽

Joaquin Camara-Quintana ◽

Kristen W. Yeom ◽

Raphael Guzman ◽

...

Keyword(s):

Carbon Dioxide Laser ◽

Pediatric Patients ◽

Pediatric Population ◽

Case Series ◽

Corpus Callosotomy ◽

Retrospective Case ◽

Drop Attacks ◽

Low Profile ◽

Thermal Tissue Damage ◽

Brain Retraction

OBJECT The authors describe the application of a flexible CO2 laser for corpus callosotomy in children with epilepsy. METHODS This retrospective case series reviews all cases in which pediatric patients underwent a corpus callosotomy performed using the CO2 OmniGuide laser between May 2005 and October 2012. Data were collected from 8 corpus callosotomy procedures in 6 pediatric patients presenting with medically refractory epilepsy marked by drop attacks. RESULTS Complete corpus callosotomies were performed in 6 patients (3 boys, 3 girls; ages 5–14 years). In 4 patients the complete callosotomy occurred as a single procedure, and in 2 patients an anterior two-thirds callosotomy was performed first. These 2 patients subsequently required a complete callosotomy due to inadequate control of their drop attacks. In all cases there was clean lesioning of the tract with preservation of the ependymal plane and less inadvertent thermal tissue damage due to low penetration of the laser through cerebrospinal fluid. All patients had resolution or improvement of drop attacks after surgery. No complications were encountered, and imaging demonstrated a clean sectioning of callosal fibers with preservation of normal ventricular anatomy. CONCLUSIONS These cases illustrate the use of this device in completing corpus callosotomy in pediatric patients. The low-profile laser fiber tip was well suited for working in the depths of the interhemispheric fissure with minimal brain retraction. The flexible CO2 laser allows a precise callosal lesioning through an interhemispheric approach and is a useful adjunct to be employed in these cases.

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713. Coccidioidal Meningitis Among Children: A Case Series and Single Center Experience In Central California

Open Forum Infectious Diseases ◽

10.1093/ofid/ofab466.910 ◽

2021 ◽

Vol 8 (Supplement_1) ◽

pp. S456-S456

Author(s):

Fouzia Naeem ◽

Linda Giglio ◽

Julia Sharma ◽

Patricia Clerkin ◽

Frederick Laningham ◽

...

Keyword(s):

Pediatric Population ◽

Care Center ◽

Tertiary Care ◽

Clinical Manifestations ◽

Case Series ◽

Neurological Complications ◽

Communicating Hydrocephalus ◽

Case Review ◽

Endemic Region ◽

Retrospective Case

Abstract Background Coccidioidal meningitis is a severe form of coccidioidomycosis associated with significant morbidity and mortality. Published literature in the pediatric population is limited, particularly on coccidioidal meningitis. Here we describe a large case series of pediatric coccidioidal meningitis followed at a tertiary care center in an endemic region. Methods We performed a retrospective case review of patients ≤21 years old followed at our facility with a diagnosis of coccidioidal meningitis from January 1, 2000, to December 31, 2018. Results Overall, 30 patients were identified during the study period. The median age was 10.8 years (IQR: 4.6-15). The majority of patients were previously healthy (93%) and all required hospitalization. Fever (90%), headache (70%), vomiting (53%), and fatigue (57%) were the most common clinical manifestations. More than one-third (40%) had concurrent pulmonary disease. Only 20 patients (67%) had initial Coccidioides complement fixation (CF) titers >=1:16. The majority had extra-axial brain involvement (60%) and seven (23%) had associated spinal canal disease. Over two-third required shunt placement (70%) and almost half of them (43%) underwent revision. Neurological complications including paresis/paralysis, stroke, neuropathy, seizures, and cognitive delay were observed in 20% of patients. Two-thirds (73%) of patients received fluconazole as the initial drug. However, 37% of those had fluconazole failure, requiring alternative treatment. Due to refractory disease, two patients required a novel triazole, isavuconazole, while adjunctive therapy with steroids and interferon-gamma (IFNγ) was used in 20% of patients. Most cases (83%) stabilized, 13% experienced relapses and/or progressive disease, and 3% were fatal. Conclusion Pediatric coccidioidal meningitis is an uncommon and sometimes devastating complication of disseminated coccidioidomycosis. Many patients present with relatively low CF titers, and communicating hydrocephalus and long term neurologic complications are common. Fluconazole treatment failures are common, and management remains difficult despite recent advances in therapy. Most patients do well once the disease is stabilized and require lifelong therapy. Newer therapeutic agents are needed. Disclosures All Authors: No reported disclosures

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