Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

Purpose: Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle myosin II heavy chain genes, MYH9, MYH10, and MYH14. As opposed to MYH9 and MYH14, no recognizable disorder has been associated with MYH10. We sought to define the clinical characteristics and molecular mechanism of a novel autosomal dominant disorder related to MYH10.

Atypical idiopathic intracranial hypertension presenting as cyclic vomiting syndrome: a case report.

Background: Idiopathic intracranial hypertension is a disorder of increased intracranial pressure in the absence of cerebrospinal outflow obstruction, mass lesion, or other underlying cause. It is a rare phenomenon in prepubertal children and is most typically found in women of childbearing age. The classic presentation consists of headaches, nausea, vomiting, and visual changes; however, children present more atypically.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5 perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its interacting partners in patient iPSC-derived neurons, suggesting a potential loss-of-function mechanism.

Doublecortin Mutation in an Adolescent Male.

Doublecortin (DCX) mutations cause abnormal development of the DCX protein that normally aids in neuronal migration during fetal development. These mutations lead to lissencephaly, or the appearance of a "smooth brain," which is varying levels of pachygyria or agyria in severe cases. Many genetic variants of the mutation have been identified, and an even greater range of phenotypic presentations have been described in the literature.

Post-Trial Sustainability and Scalability of the Benefits of a Medical Home for High-Risk Children with Medical Complexity.

Objective: To assess the sustainability of the benefits relative to usual care of a medical home providing comprehensive care for high-risk children with medical complexity (≥2 hospitalizations or ≥1 pediatric intensive care unit [PICU] admission in the year before enrollment) after we made comprehensive care our standard practice and expanded the program.

Study Design: We conducted pre-post comparisons of the rate of children with serious illness (death, PICU admission, or >7-day hospitalization) and health-system costs observed after program expansion (March 2014-June 2015) to those during the clinical trial (March 2011-August 2013) for each of the trial's treatment groups (usual care, n = 96, and comprehensive care, n = 105; primary analyses), and among all children given comprehensive care (n = 233, including trial usual care children who transitioned to comprehensive care post-trial and newly enrolled medically complex children, and n = 105; secondary analyses). We also analyzed the findings for the trial patients as a 2-phase stepped-wedge study.

Glycyl tRNA Synthetase () Gene Variant Causes Distal Hereditary Motor Neuropathy V.

Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.

Effect of an enhanced medical home on serious illness and cost of care among high-risk children with chronic illness: a randomized clinical trial.

Importance: Patient-centered medical homes have not been shown to reduce adverse outcomes or costs in adults or children with chronic illness.

Objective: To assess whether an enhanced medical home providing comprehensive care prevents serious illness (death, intensive care unit [ICU] admission, or hospital stay >7 days) and/or reduces costs among children with chronic illness.

Design, Setting, And Participants: Randomized clinical trial of high-risk children with chronic illness (≥3 emergency department visits, ≥2 hospitalizations, or ≥1 pediatric ICU admissions during previous year, and >50% estimated risk for hospitalization) treated at a high-risk clinic at the University of Texas, Houston, and randomized to comprehensive care (n = 105) or usual care (n = 96).

Difference in central and peripheral recovery in a patient with severe axonal motor neuropathy and central nervous system involvement and review of literature.

In the literature, the term fulminant Guillain-Barré syndrome is used to refer to patients with Guillain-Barré syndrome with rapidly progressive and severe weakness and/or comatose state mimicking brain death. We present the case of a 53-year-old man with fulminant Guillain-Barré syndrome with discrepancy in central nervous system and peripheral nervous system recovery. Our review of literature confirms that these patients often have good and relatively rapid recovery of central nervous system function, whereas peripheral nervous system function is relatively delayed and often incomplete.

Dysferlinopathy presenting as rhabdomyolysis and acute renal failure.

Dysferlinopathies are a heterogeneous group of autosomal recessive muscle disorders resulting from defects or deficiencies in dysferlin. Reported phenotypes range from isolated hyperCKemia to muscular dystrophy. We present a 15-year-old male adolescent who was diagnosed with a dysferlinopathy after presenting with acute renal failure secondary to rhabdomyolysis.

Secondary erythromelalgia successfully treated with intravenous immunoglobulin.

Erythromelalgia is a rare condition characterized by episodic painful erythema and warmth often affecting, but not limited to, the distal extremities. This condition is notoriously difficult to treat. We report a young female patient with seronegative polyarthritis who presented with a 6-year history of recurrent bouts of painful erythema and swelling often triggered by minor trauma.