Genetics evaluation outcomes of patients with pediatric hearing loss: 2008-2022 retrospective study.

OBJECTIVE: This study aims to explore how genetics evaluation and testing for patients with pediatric onset hearing loss affects their diagnosis and management. METHODS: Retrospective chart review was completed for patients with pediatric hearing loss that were evaluated by a genetic counselor from 2008 to 2022 with data entry into a REDCap database. Descriptive statistical analysis was completed. RESULTS: Four hundred twenty-nine patients with pediatric onset hearing loss were evaluated by genetics. Majority of patients presented with bilateral (67 %) and sensorineural (83 %) hearing loss. Genetic testing was recommended for 76 % of patients with pediatric hearing loss evaluated by a genetic counselor with 70 % completing some or all recommended tests. Overall genetic testing diagnostic rate was 34 %, with 41 % of diagnoses syndromic. Yearly trends noted an increasing number of patients evaluated, tests ordered, and subsequently an increased number of diagnoses overtime. For diagnostic results, management recommendations were made for 45 % of patients (35/78) and for 92 % of family members (72/78). This compared to total management recommendations for all patients (82/429, 19 %) and family members (110/429, 26 %). CONCLUSION: This study identified a genetic testing diagnostic rate for pediatric hearing loss of 34 % over 14 years. This study notes the beneficial outcomes of patients with hearing loss and their families meeting with a genetic counselor and the importance of collaboration with hearing loss management colleagues. It highlights the value a genetic counselor consult can add to a patient's diagnostic journey, in addition to how genetic testing impacts management for patients and their families.

Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome.

Clinical practice guidelines for individuals with Turner syndrome (TS) recommend screening for neuropsychological concerns (NC) and mental health concerns (MHC). However, current provider screening and referral patterns for NC and MHC are not well characterized. Additionally, prevalence of and risk factors for NC and MHC vary across studies. This multicenter chart review study examined the prevalence, risk factors for, and management of NC and MHC in a cohort of 631 patients with TS from three pediatric academic medical centers. NC and/or MHC were documented for 48.2% of patients. Neuropsychological evaluation recommendations were documented for 33.9% of patients; 65.4% of the sample subsequently completed these evaluations. Mental health care recommendations were documented in 35.0% of records; subsequent documentation indicated that 69.7% of these patients received such services. Most notably, rates of documented MHC, NC, and related referrals differed significantly by site, suggesting the need for standardized screening and referral practices. TS diagnosis in early childhood was associated with an increased risk of NC. Spontaneous menarche was associated with increased risk of MHC. Younger age at growth hormone initiation was associated with both increased risk of isolated NC and co-occurring NC and MHC. Mosaic karyotype was associated with decreased risk of NC and MHC.

Pharmacist value-added to neuro-oncology subspecialty clinics: A pilot study uncovers opportunities for best practices and optimal time utilization.

PURPOSE: To evaluate neuro-oncology clinician time utilization for medication management and identify a cost beneficial role for integration of a dedicated pharmacy specialists. METHODS: A pharmacist was temporarily integrated into a neuro-oncology clinic for a 30-day period to evaluate the clinical practice and perform a 14-day clinical chart evaluation and patient interactions as part of a single institutional exploratory analysis. The pharmacist completed screenings for drug-drug interactions, new therapies, medication reconciliation, and advanced interventions as part of a collaborative practice agreement for pharmacist autonomy. Pharmacist time spent was calculated and documented within the patient encounters to support physician decision-making. A comparative estimate of pharmacist versus physician time utilization and cost for each was completed to derive a savings analysis for integration of a dedicated clinic pharmacist. RESULT: During the 14-day clinical assessment, the pharmacist completed 147 encounters with 338 interventions. Of the encounters, 90% (n = 132) were higher complexity requiring plan modification, and approximately 48% (n = 162) of all interventions required ≥10 minutes of the pharmacist's time. Physician non-patient-facing time devoted to medication tasks was 5-hours weekly (0.125 FTE, full time equivalents), an estimated direct salary cost of $937/week ($45,000 yearly). Hire of a part-time pharmacist at 0.50 FTE would cover the clinical need with supported documentation and medication monitoring at a cost of $45,000/year. CONCLUSION: Defining the roles for dedicated neuro-oncology clinic pharmacists allows for cost-savings through re-allocation of physician time and improves subspecialty clinic operations as well as patient care.

A Systematic Review of Diagnostic Modalities and Strategies for the Assessment of Complications in Adult Patients with Neurofibromatosis Type 1.

BACKGROUND: Neurofibromatosis Type 1 is an autosomal dominant tumour-predisposition condition commonly diagnosed in childhood and fully penetrant by adulthood. Long-term monitoring through imaging is inconsistent and varies between high- and low-income countries. Implementation of a clinical practice guideline through a multidisciplinary clinic is instrumental to the care of adult Neurofibromatosis Type 1 patients. We aim to systematically review international diagnostic modalities and strategies to evaluate any association between a country's socioeconomic status and diagnostic modalities or strategies used for Neurofibromatosis Type 1 patients. METHODS: We searched PubMed, Embase, Web of Science, and Cochrane. Relevant clinical information on the surveillance of adult Neurofibromatosis Type 1 patients worldwide was reviewed, extracted, and synthesised. RESULTS: We identified 51 papers reporting on 7724 individuals. Multiple imaging modalities are actively employed in high-income and upper-middle-income countries for surveying adult Neurofibromatosis Type 1 patients. We did not find any relevant papers from low- and middle-income countries. CONCLUSIONS: This systematic review suggests that there is robust data on diagnostic modalities for adult Neurofibromatosis Type 1 patients in high-income countries, but not for low- and middle-income countries. There is a lack of data on consolidated diagnostic strategies from both high- and low-income countries. Efforts should be made to publish data on usual clinical practice in low- and middle-income countries to develop clinical practice guidelines describing best medical practice to fit a local context.

Efficacy of Addiction Pharmacotherapy in Alcohol Use Disorder and Their Effects on Liver Health.

Both alcohol-associated liver disease (ALD) and metabolic dysfunction-associated steatotic liver disease are leading contributors to chronic liver diseases. These conditions often coexist, exacerbating disease progression. Despite ALD being a leading cause of liver transplantation, many individuals with alcohol use disorder (AUD) do not receive treatment. In this review, we discussed the epidemiology of ALD in AUD, various treatment options for AUD, and their efficacy on liver health. Our critical analysis of current evidence underscores the need for integrated models involving multiple stakeholders to improve ALD management.

Multidisciplinary Rheuma-Derma Clinics: 5 Years of Experience at the San Marco Hospital in Catania.

INTRODUCTION: Early psoriatic arthritis (PsA) diagnosis is critical to prescribe timely treatment to prevent the irreversible joint damage and the many other problems that patients with PsA experience. This retrospective study aimed to highlight the benefits of a Rheuma-Derma Clinic focused on the early diagnosis and prompt treatment of PsA with a shared approach among Italian psoriasis patients. Diagnosing PsA early is the main goal to reduce joint damage and disability in the patients affected. Studies describing the results of rheuma-derma clinics aimed to reach this goal emerged in the last decade. This study presents limitations and advantages typical of retrospective designs. METHODS: A Rheuma-Derma Clinic was created in 2017 at the Rheumatology Department of the Hospital Policlinico Gaspare Rodolico of the University of Catania in San Marco, Italy. This study compared the number of patients under disease-modifying antirheumatic treatment 5 years before and after the joint clinic was created. A rheumatologist and dermatologist simultaneously assessed patients with psoriasis and/or PsA to obtain a rapid multidisciplinary diagnostic approach and a shared therapeutic strategy. In addition, demographic, clinical, and clinimetrics data were collected. RESULTS: The number of patients with PsA receiving biological disease-modifying antirheumatic drugs increased 47% (from 255 to 374 patients) before and after the joint clinic was implemented. Likewise, those receiving conventional synthetic disease-modifying antirheumatic drugs increased by 47% (from 367 to 539) as well. Additionally, for all the clinimetrics evaluated (DAS28, HAQ, BASDAI, DAPSA, PASI, PGA), there was an improvement over the 12 months under the Rheuma-Derma Clinic care. The measures that improved the most were DAPSA, PGA, PASI, and BASDAI. CONCLUSION: The implementation of the Rheuma-Derma Clinic was associated with an increase in the number of patients diagnosed, the number of patients with PsA receiving DMARD treatments, and improvements in clinimetrics among the study participants.

Establishing a Multidisciplinary Liver Tumour Clinic in a Limited Resource Scenario: Core Concepts and Our Experience.

Multidisciplinary tumour clinics represent the modern state-of-the-art cancer care. However, liver tumour clinics are resource exhaustive and establishing them in resource restricted scenarios is a challenge. We present core concepts in establishing a multidisciplinary tumour clinic, followed by our 5-year experience of multidisciplinary liver tumour clinic from Tata Memorial Hospital Mumbai, India, which represents one of the largest hepatobiliary oncology units in the country. This study provides a roadmap for setting up a multidisciplinary liver tumour clinic and explains the stepwise real-time working of the clinic. The account will act as a blueprint for the establishment of such clinics in the country and abroad.

Multidisciplinary Clinics in Lung Cancer Care: A Systematic Review.

Multidisciplinary cancer clinics (MDCCs) are recognized in cancer care as an alternate model of care for lung cancer patients. However, the precise MDCC characteristics that could potentially improve the quality of care in lung cancer care have not been clearly defined. We performed a systematic review of the data regarding MDCCs in the treatment of patients with lung cancer to summarize and evaluate the available evidence and to determine valuable clinic characteristics and projected outcomes. We searched Embase, Cochrane, Medline, PubMed, and Web of Science through April 2017 for studies that included ≥ 2 physician specialties in a MDCC for lung cancer. A total of 2374 unique articles were identified, of which 13 met the inclusion criteria. All the studies were either retrospective or qualitative, with many having small sample sizes. The most commonly reported quantitative outcome for MDCCs was a decreased time from diagnosis to treatment; however, this was only statistically significant in 2 studies. Evidence was conflicting regarding improved patient survival. Several studies of MDCCs reported improved qualitative outcomes, including increased patient satisfaction, increased collaboration, and cohesive communication among care providers, although the sample sizes were small. The few studies of MDCCs that included a care coordinator, in addition to physicians from multiple specialties, reported improvements in patient satisfaction. Overall, our review of the reported data revealed a paucity of evidence regarding the value of MDCCs for lung cancer patients, highlighting the need for further studies to understand the optimal medical model to deliver care.

Introduction to supplement: the current status of treatment for ALS.

ALS is a lethal neurodegenerative disease wherein the diagnosis is often delayed. Our understanding of the pathobiology is slowly expanding, and the number of new genes is rapidly increasing. The development of potential treatments targeting specific mechanisms is beginning to offer hope. Evidence-based treatments and the development of quality measures have raised the standard of care. The current status of treatment for ALS includes one drug riluzole that slows progression modestly, and another drug edaravone that was recently approved by FDA to slow ALS progression. Multidisciplinary clinics and symptomatic treatments ease the burden of ALS and prolong life. An overview of these treatments is provided here.

Breaking the news of a diagnosis of motor neurone disease: A national survey of neurologists' perspectives.

Communication of the diagnosis of MND is daunting for patients and neurologists. This study aimed to establish a knowledge base of current Australian practice of breaking the news of an MND diagnosis, to assess the neurologists' educational and training needs and to compare the feedback obtained from neurologists and patients to international practice guidelines. An anonymous survey of neurologists was undertaken in Australia (2014). 73 neurologists responded to this national survey (50.4% response rate). Nearly 70% of neurologists reported finding it "somewhat to very difficult" communicating the MND diagnosis, and 65% reported feeling moderate to high stress and anxiety at the delivery of diagnosis. Compared to international guidelines, areas for improvement include length of consultation, period of follow up and referral to MND associations. Two-thirds of neurologists were interested in further training to respond to patient's emotions and development of best practice guidelines. This is the first national study to provide a comprehensive insight into the process of delivering the MND diagnosis from the neurologists' perspective and to make comparisons with those of patients and the international guidelines. This study forms the basis for developing protocols to improve communication skills and alleviate the emotional burden associated with breaking bad news.

Newborn craniofacial malformations: orofacial clefting and craniosynostosis.

Craniofacial malformations are among the most common birth defects. Although most cases of orofacial clefting and craniosynostosis are isolated and sporadic, these abnormalities are associated with a wide range of genetic syndromes, and making the appropriate diagnosis can guide management and counseling. Patients with craniofacial malformation are best cared for in a multidisciplinary clinic that can coordinate the care delivered by a diverse team of providers.

Optimizing perioperative Crohn's disease management: role of coordinated medical and surgical care.

AIM: To investigate rates of re-establishing gastroenterology care, colonoscopy, and/or initiating medical therapy after Crohn's disease (CD) surgery at a tertiary care referral center. METHODS: CD patients having small bowel or ileocolonic resections with a primary anastomosis between 2009-2012 were identified from a tertiary academic referral center. CD-specific features, medications, and surgical outcomes were abstracted from the medical record. The primary outcome measure was compliance rates with medical follow-up within 4 wk of hospital discharge and surveillance colonoscopy within 12 mo of surgery. RESULTS: Eighty-eight patients met study inclusion criteria with 92% (n=81) of patients returning for surgical follow-up compared to only 41% (n=36) of patients with documented gastroenterology follow-up within four-weeks of hospital discharge, P<0.05. Factors associated with more timely postoperative medical follow-up included younger age, longer length of hospitalization, postoperative biologic use and academic center patients. In the study cohort, 75.0% of patients resumed medical therapy within 12 mo, whereas only 53.4% of patients underwent a colonoscopy within 12 mo of surgery. CONCLUSION: Our study highlights the need for coordinated CD multidisciplinary clinics and structured handoffs among providers to improve of quality of care in the postoperative setting.

Síndrome de Turner: nuestra experiencia en la creación del Registro Institucional y de la Unidad Interdisciplinaria en el Hospital Italiano de Buenos Aires: un primer paso para el mejor seguimiento / Turner syndrome: our experience in the creation of the Registry Institutional and Interdisciplinary Unit at the Italian Hospital of Buenos Aires: a first step to the best follow-up

El síndrome de Turner (ST) resulta de la ausencia completa o parcial del segundo cromosoma sexual en fenotipos femeninos. Tiene una incidencia de 1:2000- 2500 nacidas vivas. Recién en la última década se ha puesto atención a la salud de las adultas con ST. La mortalidad es 3 veces superior respecto de la población general debido al riesgo de disección aórtica por anomalías cardiovasculares estructurales y aterosclerosis vinculada a hipertensión arterial, diabetes, dislipidemia y obesidad. También presentan elevada prevalencia de enfermedades autoinmunitarias. Objetivo: evaluar la calidad del seguimiento clínico de pacientes adultas con ST, comparando los controles de salud preconformación y posconformación del Registro y de la Unidad Interdisciplinaria. En el año 2017 fuimos convocados para integrar el Programa de Enfermedades Raras del Hospital Italiano de Buenos Aires. A partir de la creación del Registro Institucional y del equipo multidisciplinario obtuvimos mejoría significativa en los controles por las especialidades de cardiología, endocrinología y otorrinolaringología, en los controles bioquímicos del metabolismo lipídico, hidrocarbonado, hepatograma, TSH y anticuerpos para celiaquía e imágenes cardiovasculares y densitometría ósea. En conclusión, el seguimiento sistematizado e institucional, mediante el Registro y la creación de la Unidad Interdisciplinaria de Síndrome de Turner, permitió encontrar las falencias del sistema de atención y optimizar el seguimiento de esta población. (AU)

Turner syndrome (TS) results from the complete or partial absence of the second sex chromosome in female phenotypes. It has an incidence of 1: 2000-2500 girls born alive. Only in the last decade has been paid attention to the health of adults women with TS. Mortality is 3 times higher than in the general population due to the risk of aortic dissection cause to structural cardiovascular anomalies and atherosclerosis related to hypertension, diabetes, dyslipidemia and obesity. They also have a high prevalence of autoimmune diseases. Until nowadays in Argentina do not exist a national registry of this disease that complies with the international follow-up recommendations for these patients. We proposed to develop the institutional register at 2014 and a multidisciplinary team was created to care and follow up girls and women with TS during 2015. It was indexed to Italian Hospital of Buenos Aires' Rare Diseases Program since 2017. After the creation of the institutional registry and the multidisciplinary team we obtained a significant improvement in cardiology, endocrinology and otorhinolaryngology schedule visits, in lipids and hydrocarbon metabolism, liver, thyroid and celiac diseases biochemical controls and in the performance of cardiovascular MNR and bone densitometry. In conclusion, the systematized and institutional follow-up, through the registry and the creation of the Interdisciplinary Unit of Turner Syndrome, allowed us to find the flaws of the care system and to optimize the follow up of this population. (AU)