Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct -related phenotype.

Background: Morquio B disease (MBD) is a distinct -related dysostosis multiplex presenting a mild phenocopy of -related Morquio A disease. Previously reported cases from European countries carry the W273L variant on at least one allele and exhibit a pure skeletal phenotype (). Only a minority of MBD cases have been described with additional neuronopathic findings ().

Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct -Related Dysostosis Multiplex.

Morquio B disease (MBD) is an autosomal recessive -gene-related lysosomal storage disease, presenting with a peculiar type of dysostosis multiplex which is also observed in -related Morquio A disease. MBD may present as pure skeletal phenotype () or in combination with the neuronopathic manifestations seen in type 2 (juvenile) or type 3 (late onset) GM1 gangliosidosis (). The main skeletal features are progressive growth impairment, kyphoscoliosis, coxa/genua valga, joint laxity, platyspondyly and odontoid hypoplasia.

Developments in evidence creation for treatments of inborn errors of metabolism.

Inborn errors of metabolism (IEM) represent the first group of genetic disorders, amenable to causal therapies. In addition to traditional medical diet and cofactor treatments, new treatment strategies such as enzyme replacement and small molecule therapies, solid organ transplantation, and cell-and gene-based therapies have become available. Inherent to the rare nature of the single conditions, generating high-quality evidence for these treatments in clinical trials and under real-world conditions has been challenging.

Morquio-B disease: Clinical and genetic characteristics of a distinct -related dysostosis multiplex.

Background: Morquio-B disease (MBD) is a distinct -related dysostosis multiplex involving the trabecular parts of long bones and spine, presenting a mild phenocopy of -related Morquio-A disease.

Methods: We analyzed 63 (n = 62 published) cases with MBD to describe their clinical, biochemical and genetic features.

Results: Forty-one of 51 cases with informative clinical data had including progressive growth impairment, kyphoscoliosis, coxa/genua valga, joint laxity, platyspondyly, odontoid hypoplasia.

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.

Background: Phenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of treatment through newborn screening has gradually shifted treatment goals from the prevention of disabling complications to the optimization of long term outcomes. However, clinical evidence demonstrates that subtle suboptimal neurocognitive outcomes are present in the early and continuously diet-treated population with PAH deficiency.

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.

Morquio B disease (MBD) or Mucopolysaccharidosis type IV B (MPS IV B) is caused by particular GLB1 mutations specifically affecting the affinity of beta-galactosidase to keratan sulphate, resulting in dysostosis multiplex resembling Morquio A (MPS IV A) disease (GALNS deficiency). Additional neuronopathic features of GM1 II/III (juvenile/adult) gangliosidosis have been reported in some patients. Our patient/caregiver online survey was aimed at elucidating the clinical manifestations of this ultra-rare condition.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Background: We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interactions with the health care system.

Methods: From four Canadian centres, we conducted semi-structured telephone interviews with parents/caregivers of children with an IMD who were born between 2006 and 2015 and who were participating in a larger cohort study.

The effect of massage therapy on autonomic activity in critically ill children.

Objectives. Our main objective was to describe the effect of foot and hand (F&H) massage on the autonomic nervous system (ANS) activity in children hospitalized in a pediatric intensive care unit (PICU); the secondary objectives were to assess the relationship between ANS function and the clinical severity and to explore the effects of repeated massage sessions on the ANS. Methods.

Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.

We analyzed long-term sustainability of improved blood Phenylalanine (Phe) control and changes to dietary Phe tolerance in 11 patients (1 month to 16 years), with various forms of primary PAH deficiency (classic, moderate, severe phenylketonuria [PKU], mild hyperphenylalaninemia [HPA]), who were treated with 15-20mg/kg/d Sapropterin-dihydrochloride during a period of 13-44 months. 7/11 patients had a sustainable, significant reduction of baseline blood Phe concentrations and 6 of them also had an increase in mg/kg/day Phe tolerance. In 2 patients with mild HPA, blood Phe concentrations remained in the physiologic range even after a 22 and 36% increase in mg/kg/day Phe tolerance and an achieved Phe intake at 105% and 268% of the dietary reference intake (DRI) for protein.

Surgical suite to pediatric intensive care unit handover protocol: implementation process and long-term sustainability.

The article reports the long-term sustainability of a standardized transfer protocol from cardiac surgical suite to the pediatric intensive care unit. Using rapid process improvement technique, the original mean defect rate per handover decreased from 13.2 to 0 and 0.

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 and movement disorder in 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate and protein/arginine restricted diets.

The association between major birth defects and preterm birth.

Objective: To evaluate the association between preterm birth and major birth defects by maternal and infant characteristics and specific types of birth defects.

Study Design: We pooled data for 1995-2000 from 13 states with population-based birth defects surveillance systems, representing about 30% of all U.S.

National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001.

Background: In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity.

Methods: Population-based data from the National Birth Defects Prevention Network were combined to estimate the prevalence of 21 selected defects for 1999-2001, stratified by surveillance system type. National prevalence was estimated for each defect by pooling data from 11 states with active case-finding, and adjusting for the racial/ethnic distribution of US live births.

Reported multivitamin consumption and the occurrence of multiple congenital anomalies.

The purpose of this case-control study was to determine whether multivitamin use is associated with the occurrence of multiple congenital anomalies (MCA). MCA case-infants were infants with two or more major birth defects affecting at least two different organ systems, with no recognized chromosome abnormality or single gene disorder. Control-infants were a random sample of live births with no major birth defects from the same population (metropolitan Atlanta) and time period (1993-1997) as the case-infants.

High rates of neural tube defects in Ukraine.

Background: Oral consumption of synthetic folic acid can prevent neural tube defects (NTDs), which are some of the most severe congenital anomalies. The prevalence of NTDs in Ukraine and other countries of the former U.S.