Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case.

Joubert syndrome is an uncommon, autosomal recessive disorder characterized by abnormal brain development involving the underdevelopment or absence of the cerebellar vermis. The classic clinical features include developmental delays, hypotonia, abnormal eye movements, and hyperpnea. On brain magnetic resonance imaging (MRI), an essential finding for the diagnosis of Joubert syndrome is a cerebellar and brainstem malformation called the molar tooth sign, characterized by a hypoplastic cerebellar vermis with dysplasia of the superior cerebellar peduncles.

Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome.

We investigated 4 European domestic shorthair kittens with skin lesions consistent with the dermatosparaxis type of the Ehlers-Danlos syndrome, a connective tissue disorder. The kittens were sired by the same tomcat but were born by 3 different mothers. The kittens had easily torn skin resulting in nonhealing skin wounds.

Patient Perspectives on the COVID-19 Vaccine: A Pilot Survey Study of Patients in Endocrinology Clinics.

Objective: Vaccine hesitancy is an impediment to fighting the COVID-19 pandemic. Endocrinology clinics routinely see patients who are at high risk of a more aggressive form of COVID-19, including patients with diabetes, obesity, and hypertension. As patients with endocrine-related conditions often require multiple visits each year, endocrinology clinics provide a significant opportunity for vaccine education.

Capturing Genetic Diversity and Selection Signatures of the Endangered Kosovar Balusha Sheep Breed.

There is a growing concern about the loss of animal genetic resources. The aim of this study was to analyze the genetic diversity and potential peculiarity of the endangered Kosovar sheep breed Balusha. For this purpose, a dataset consisting of medium-density SNP chip genotypes (39,879 SNPs) from 45 Balusha sheep was generated and compared with SNP chip genotypes from 29 individuals of a second Kosovar breed, Bardhoka.

The Complex and Diverse Genetic Architecture of the Absence of Horns (Polledness) in Domestic Ruminants, including Goats and Sheep.

Horns are the most obvious common feature of Bovidae. The naturally occurring absence of horns in these species, also known as polledness, is of surprisingly heterogeneous nature, although they are Mendelian traits. This review compares in detail the molecular differences among the causes of inherited polledness in the domestic ruminant species of cattle, yak, sheep, and goat based on the causal gene variants that have been discovered in recent years.

Applicability of the GAIA Maternal and Neonatal Outcome Case Definitions for the Evaluation of Adverse Events Following Vaccination in Pregnancy in High-income Countries.

Background: The Brighton Collaboration Global Alignment of Immunization Safety in Pregnancy (GAIA) project developed case definitions for the assessment of adverse events in mothers and infants following maternal immunization. This study evaluated the applicability of these definitions to data collected in routine clinical care and research trial records across 7 sites in high-resource settings.

Methods: Data collection forms were designed and used to retrospectively abstract the key elements of the GAIA definitions from records for 5 neonatal and 5 maternal outcomes, as well as gestational age.

Parenting with a disability: exploring the satisfaction and efficacy of the PediaLift wheelchair accessible crib.

Purpose: Parents with disabilities face many challenges in fulfilling their daily roles. Previous literature has shown that assistive technology (AT) can be a viable solution to help an individual with a disability participate in everyday roles. Although AT can increase ability of parents with disabilities to care for their children, there are many barriers that prevent them from getting the AT that they need.

Hepatic Complications in Preeclampsia.

In cases of preeclampsia with severe features and hemolysis, elevated liver enzymes, and low platelet (HELLP) syndrome, hepatic complications portend significant short-term and long-term maternal health implications. In this section, we will discuss the physiology of normal hepatic function in pregnancy, the pathophysiology of the abnormalities noted in hepatic function during the process of preeclampsia development, the diagnosis and management of preeclampsia, imitators of HELLP syndrome, the utility of various biomarkers in the diagnosis and prognosis of the preeclampsia disease spectrum, possible underlying genetic factors predisposing women to developing hepatic abnormalities with preeclampsia, and finally prognosis and management of a subcapsular hematoma.

Pheochromocytoma-Induced Takotsubo Cardiomyopathy.

Pheochromocytoma, a rare catecholamine-secreting tumor, typically manifests itself with paroxysmal hypertension, tachycardia, headache, and diaphoresis. Less often, symptoms related to substantial hemodynamic compromise and cardiogenic shock occur. We report the case of a 66-year-old woman who presented with abdominal pain.

Developmental functioning and symptom severity influence age of diagnosis in Canadian preschool children with autism.

Background: Early diagnosis of autism spectrum disorder (ASD) is essential in most Canadian jurisdictions to access interventions that improve long-term child outcomes. Our main objective was to identify factors associated with timing of ASD diagnosis in five provinces across Canada.

Methods: Factors influencing age of diagnosis were assessed in the analyses of an inception cohort of children diagnosed with ASD between ages 2 and 5 years.

Bromocriptine Use in Peripartum Cardiomyopathy: Review of Cases.

 This study is to review published cases of peripartum cardiomyopathy (PPCM) treated with bromocriptine and outline pros and cons of the treatment strategy.  Data were collected from PubMed/MedLine, ClinicalTrials.gov; the years 2007 to 2018 were searched for English-language articles.

Physical Therapists' Use and Alteration of Standardized Assessments of Motor Function in Children.

Purpose: This study presents survey responses of pediatric physical therapists' use and alteration of standardized assessments of motor function in children aged 2 to 10 years.

Methods: Electronic and paper surveys were distributed to practicing physical therapists through the APTA Academy of Pediatric Physical Therapy electronic newsletter and 2 national conferences. Data were analyzed by response frequencies, qualitative responses, and χ(2) analyses for demographic characteristics.

PROVIDER PRACTICE HABITS AND BARRIERS TO CARE IN OBESITY MANAGEMENT IN A LARGE MULTICENTER HEALTH SYSTEM.

Objective: To identify provider recommendations and barriers in obesity management in a multicenter academic health system with extensive weight-loss management resources.

Methods: A 26-question online survey was sent to attending physicians, trainees, and advanced practice providers in primary care specialties (internal medicine, family medicine, women's health) and endocrinology.

Results: The survey response rate was 26% (111/430).

Mobile Application Use Among Obstetrics and Gynecology Residents.

Background: Mobile applications (apps) are increasingly used in clinical settings, particularly among resident physicians. Apps available to patients and physicians are rapidly expanding.

Objective: We aimed to describe obstetrics and gynecology (ob-gyn) residents' use of and attitudes toward ob-gyn-related mobile apps.

Valuable occupational therapy fieldwork educator behaviors.

Objective: The purpose of this study was to investigate fieldwork educator behaviors that are valuable from the perspective of Level II occupational therapy and occupational therapist assistant students and fieldwork educators.

Participants: 85 fieldwork educators and 37 students from Eastern and Western parts of the United States.

Methods: The 5 competency categories of the Self Assessment Tool for Fieldwork Educator Competency were used as the basis for developing the survey items and data was analyzed with non-parametric statistics to check for differences among groups of respondents.

Donor families, distinctive secondary losses, and "second death" experiences.

Communication between donor families and the recipients of their loved ones' organs and tissues is a relatively new area of study. The National Kidney Foundation founded the National Donor Family Council in 1992 as a home for donor families. One of several items addressed by the Council was guidelines for communication, supporting the rights of donor families and recipients to communicate and build relationships should they choose to do so.