A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.

Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by variants in PCCA or PCCB, both sub-units of the propionyl-CoA carboxylase (PCC) enzyme. PCC is required for the catabolism of certain amino acids and odd-chain fatty acids. In its absence, the accumulated toxic metabolites cause metabolic acidosis, neurologic symptoms, multi-organ dysfunction and possible death.

Increased prevalence of attention-deficit hyperactivity disorder symptomatology in patients with familial Mediterranean fever.

Objectives: Previous studies suggest that exposure to inflammation in infancy may increase the risk for attention-deficit and hyperactivity disorder (ADHD). We studied the ADHD manifestations among 124 familial Mediterranean fever (FMF) patients and examined the relationship between FMF patient characteristics and ADHD.

Methods: Clinical, demographic, and genetic data were abstracted from patients' medical records and supplemented by information obtained during clinic visits.

Ethical Dilemma: Elexacaftor-Tezacaftor-Ivacaftor or Lung Transplantation in Cystic Fibrosis and End-Stage Lung Disease?

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). Novel, highly effective, modulator therapies correcting and potentiating CFTR function are changing the course of this disease. We present an ethical dilemma involving an 11-year-old child with CF and end-stage lung disease.

Discontinuation of Colchicine Therapy in Children With Familial Mediterranean Fever.

Objective: Colchicine has been considered a lifelong therapy for familial Mediterranean fever (FMF). Recent studies describe patients who discontinued colchicine, but there is a lack of data pertaining to predictors of success. The aims of our study were to describe a cohort of pediatric patients with FMF who discontinued colchicine therapy, and to identify factors predicting successful termination of colchicine.

Moderate Gastrointestinal Complications Due to "Superglue" Ingestion in a Pediatric Patient.

Childhood cases of cyanoacrylates generally do not cause moderate or severe gastrointestinal complications. We report the case of a 3-year-old boy referred to our pediatric emergency room and admitted to the pediatric department with signs of upper gastrointestinal obstruction that required invasive intervention. Although it is rare, cyanoacrylate ingestion may injure esophageal and gastric mucosa in the pediatric population.

Coronavirus and People with Intellectual Disabilities: A Special Perspective.

The attention of the world is focused on the coronavirus disease-2019 (COVID-19) pandemic. There is s general awareness that certain population groups are at greater risk. However, some other populations may be transparent and may not be receiving the attention they warrant.

The science of hope.

Hope is a contextual term that has different connotations depending on the setting. We analyse the concept of hope with respect to its applicability for oncology. We review studies that present hope as a direct or secondary mediator of outcome.

Fetal alcohol spectrum disorder among pre-adopted and foster children.

Background: Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disorders. Children in foster care or domestically adopted are at greater risk for FASD. The aim of this study was to determine the prevalence or risk for FASD in a selected population of foster and adopted children.

Hospice Care: Hope and Meaning in Life Mediate Subjective Well-Being of Staff.

Objectives: Subjective well-being has been associated with decreased work burnout and elevated work engagement. We investigated the impact of hope and meaning in life on subjective well-being among workers in a hospice care setting. Comparison was made to health-care workers in a rehabilitation unit.

Pyogenic sacroiliitis in children: don't forget the very young.

Pyogenic sacroiliitis (PS) is rare with less than 100 pediatric cases reported in the medical literature. To better characterize PS in the pediatric population, we investigated a series of children presenting with PS. Retrospective data analysis was done at an academic tertiary center between the years of 2000 and 2017.

Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder.

A 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely elevated serum lactate following an intercurrent infection and interruption of his frequent intake of carbohydrates. The patient developed shock, oliguric renal failure, and cardiorespiratory failure requiring mechanical ventilation and inotropes. At the peak of metabolic decompensation and clinical instability, serum lactate reached a level of 47.

Sudden onset unexplained encephalopathy in infants: think of cannabis intoxication.

Unlabelled: The use of cannabis as both a therapeutic agent and recreational drug is common, and its availability is increasing as a result of legalization in many countries. Among older children, the manifestations of cannabis intoxication are numerous and include both neurological and systemic manifestations that are frequently non-specific. There have been only a few reports detailing cannabis intoxication in infants and toddlers.

Hospitalization of children with down syndrome.

Introduction: Children with Down syndrome present with multiple medical problems in a higher prevalence compared with the general population, which may lead to hospitalizations.

Methods: Analysis of 560 hospitalizations of 162 children aged 0-16 years with Down syndrome at Hadassah Medical Center during the years 1988-2007 compared with data on children in the general population, hospitalized at the same period. Data was collected from patient files and statistical data from the Ministry of Health.

Dead sea water intoxication.

Near drowning in the Dead Sea is associated with both respiratory manifestations and severe electrolyte abnormalities. It is often difficult to distinguish between the contributions of sea water aspiration or ingestion to clinical manifestations. We present a unique case of accidental ingestion of a large amount of Dead Sea water through a gastrostomy tube in which a patient with familial dysautonomia presented with severe electrolyte disturbances.

Localized reduction of gingival inflammation using site-specific therapy with a topical gingival patch.

Methods: Sites of inflammation were identified on subjects with moderate-to-severe chronic periodontitis, and were allocated to either patch placement or untreated controls, both for 24 hours. Conventional treatment with scaling and root planing was postponed during the study period. Inflammation was evaluated measuring neutrophilic activity using gingival crevicular fluid (GCF) beta-glucuronidase (b-glu) levels, and clinical response was evaluated using the gingival index (GI).

An existential approach to oncology: meeting the needs of our patients.

Purpose Of Review: Patients with cancer face both physical and psychological challenges. In the past, oncologists often limited themselves to the medical aspects of cancer care and delegated psychosocial interventions to professionals from other disciplines. In this review, we explore the methods by which oncologists can expand their role in treating cancer patients.

Effect of an herbal mouth rinse in preventing periodontal inflammation in an experimental gingivitis model: a pilot study.

Background: Gingivitis is a chronic inflammatory condition, resulting from gingival bacteria and bacterial byproducts. Antiplaque oral rinses reduce inflammation by removing or inhibiting plaque formation. The purpose of this pilot study was to examine the anti-inflammatory effects of HM-302, a mouth rinse based on natural products, on gingival inflammation.

Fetal alcohol spectrum disorder in Israel: increased prevalence in an at-risk population.

Background: Maternal exposure to alcohol during pregnancy can lead to a wide range of clinical manifestations in their offspring, termed fetal alcohol spectrum disorder (FASD). In Israel, relatively few cases of FASD have been diagnosed and the prevalence has not been systematically evaluated.

Objectives: To determine the number of children with FASD or at risk for FASD in a select population of high risk patients seen at a clinic evaluating foster and adopted children.

Post-polio syndrome: impact of hope on quality of life.

Purpose: To determine the effect of future-oriented coping strategies on the quality of life (QOL) of individuals with post-polio syndrome (PPS).

Methods: A correlative study, in which a cohort of 61 patients was surveyed and a group of 40 healthy, age-matched individuals served as controls. Patients were surveyed as to their QOL, levels of hope and utilization of proactive coping, employment status and degree of functionality.

Morbidity and hospitalizations of adults with Down syndrome.

Over the last decade a significant increase in the life expectancy of people with Down syndrome (DS) has been observed, which has caused a higher incidence of morbidity as they age. However, there is a lack of literature regarding morbidity and hospitalization of adults with DS. Analysis of 297 hospitalizations of 120 adults with DS aged 18-73 years hospitalized at Hadassah Medical Centers during the years 1988-2007 compared with data of the general population, hospitalized at the same period.

The association between reality-based beliefs and indirectly experienced traumatization.

The purpose of the study was to examine the association between belief types and the magnitude of indirect traumatization. Specific types of beliefs were defined in terms of the cognitive orientation theory, which is a cognitive-motivational approach to the understanding, predicting, and changing of behaviors. Belief types that were analyzed included beliefs about self, general beliefs, beliefs about norms, and goal beliefs as they relate to personal growth.

A phase II trial of a transmucosal herbal patch for the treatment of gingivitis.

Background: Systemic treatments for gingivitis frequently are inadequate for controlling specific sites of severe gingival inflammation. The authors conducted a study to test site-specific therapy using a transmucosal herbal periodontal patch (THPP) that was impregnated with plant extracts reported to reduce inflammatory response.

Methods: The study was a single-center, randomized, placebo-controlled, double-masked, longitudinal phase II trial involving participants with clinically diagnosed gingivitis.