Developing a Prospective Gestational Lyme Disease Study.

Lyme disease in pregnancy is understudied. The few available reports of Borrelia infection during pregnancy collecting clinical outcomes, with or without confirmed fetal infection both in utero and neonatal, are limited to case reports and small series. Population-based studies are not available.

Acute Rhabdomyolysis in a Child with Multiple Suspicious Gene Variants.

Rhabdomyolysis is diagnosed with creatinine kinase (CK) elevation beyond 1000 U/L or ten times above the normal upper limit. Severe episodes can be fatal from electrolyte imbalance, acute renal failure, and disseminated intravascular coagulation. A 13-month-old child was admitted with a CK of 82,090 U/L in the setting of respiratory tract infection-related hyperthermia of 106.

Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay.

Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1.

Characteristics of Orofacial Clefting in Hawai'i.

Orofacial clefts are birth defects that require a multi-disciplinary approach for repair and ongoing management as there are often concomitant chronic health issues. Orofacial clefts can occur as an isolated finding, in combination with other anomalies, or as part of a genetic syndrome. When occurring as part of a genetic syndrome, the complexity of management increases and has lifelong implications for these individuals, their families, and their health care providers.

Mutations in IFT-A satellite core component genes and produce short rib polydactyly syndrome with distinctive campomelia.

Background: Skeletal ciliopathies comprise a spectrum of ciliary malfunction disorders that have a profound effect on the skeleton. Most common among these disorders is short rib polydactyly syndrome (SRPS), a recessively inherited perinatal lethal condition characterized by a long narrow chest, markedly shortened long bones, polydactyly and, often, multi-organ system involvement. SRPS shows extensive locus heterogeneity with mutations in genes encoding proteins that participate in cilia formation and/or function.

Further Evidence That the CFTR Variant c.2620-6T>C Is Benign.

The c.2620-6T>C variant in the gene is a rare variant about which little is known. We present an asymptomatic adult who has this variant as well as the well described delta F508 pathogenic variant in transpresentation.

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Identification of rare genetic variants in patients with intellectual disability (ID) has been greatly accelerated by advances in next generation sequencing technologies. However, due to small numbers of patients, the complete phenotypic spectrum associated with pathogenic variants in single genes is still emerging. Among these genes is ZBTB18 (ZNF238), which is deleted in patients with 1q43q44 microdeletions who typically present with ID, microcephaly, corpus callosum (CC) abnormalities, and seizures.

Mosaic paternal genome-wide uniparental isodisomy with down syndrome.

We report on a 6-month-old girl with two apparent cell lines; one with trisomy 21, and the other with paternal genome-wide uniparental isodisomy (GWUPiD), identified using single nucleotide polymorphism (SNP) based microarray and microsatellite analysis of polymorphic loci. The patient has Beckwith-Wiedemann syndrome (BWS) due to paternal uniparental disomy (UPD) at chromosome location 11p15 (UPD 11p15), which was confirmed through methylation analysis. Hyperinsulinemic hypoglycemia is present, which is associated with paternal UPD 11p15.

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome.

This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy.

Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations.

Genetic counseling for prenatal diagnosis of autosomal trisomy is complex because of the uncertainty of outcome, which is important for management decisions. Compilation of cases of prenatally diagnosed autosomal trisomies in amniocytes has been done previously in an attempt to elucidate the clinical phenotype of these pregnancies. It has been greater than a decade since these studies were completed.

Unusual presentation of pelizaeus-merzbacher disease: female patient with deletion of the proteolipid protein 1 gene.

Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected females reported in the medical literature with a variety of different mutations in this gene. No affected females to date have a deletion like our patient.

Familial congenital bilateral vocal fold paralysis: a novel gene translocation.

Objectives: True vocal fold (TVF) paralysis is a common cause of neonatal stridor and airway obstruction, though bilateral TVF paralysis is seen less frequently. Rare cases of familial congenital TVF paralysis have been described with implied genetic origin, but few genetic abnormalities have been discovered to date. The purpose of this study is to describe a novel chromosomal translocation responsible for congenital bilateral TVF immobility.

Erik Erikson and his problematic identity.

In his psychohistorical biographies of Luther and Gandhi, Erik Erikson proposed that great issues of a particular time and place, as experienced by sensitive and creative individuals who are working to resolve their inner conflicts within these contexts, could find solutions that transcend themselves and yield conceptualizations that transform the world. Although Erikson was able to create a conceptualization of the adolescent task of establishing a coherent identity, one that gave voice to the aspirations and frustrations of the rebellious student movements of the 1960s, he was never able, over his lifetime, to resolve his own identity issues. Was he Dane or German, American or Scandinavian, Jew or Christian or both? His lifelong back-and-forths on this struggle are chronicled.

A new model for providing cell-free DNA and risk assessment for chromosome abnormalities in a public hospital setting.

Objective: Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management.

Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

Objectives: Autosomal recessive long QT syndrome (LQTS), or Jervell and Lange-Nielsen syndrome (JLNS), can be associated with sensorineural hearing loss. We aimed to explore newborn hearing screening combined with electrocardiograms (ECGs) for early JLNS detection.

Study Design: In California, we conducted statewide, prospective ECG screening of children ≤ 6 years of age with unilateral or bilateral, severe or profound, sensorineural or mixed hearing loss.

Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.

Several recent reports of interstitial deletions at the terminal end of the short arm of chromosome 3 have helped to define the critical region whose deletion causes 3p deletion syndrome. We report on an 11-year-old girl with intellectual disability, obsessive-compulsive tendencies, hypotonia, and dysmorphic facial features in whom a 684 kb interstitial 3p25.3 deletion was characterized using array-CGH.

Pregnancy outcome in a woman with prune belly syndrome.

Prune belly syndrome is a rare congenital syndrome that primarily affects male fetuses. Affected men are universally infertile; however, there is a paucity of information published on the reproductive potential of affected women. Pregnancy outcomes in affected women have not been described in the literature.

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes.

We report the prenatal diagnosis of cystic hygroma that was subsequently identified to have haploinsufficiency of the FOXF1 and FOXC2 genes via array comparative genomic hybridization (aCGH). Deletion o f these genes has previously neither been associated with cystic hygroma nor prenatally diagnosed. The FOX gene cluster is involved in cardiopulmonary development.

Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics.

We report on the natural history of diaphanospondylodysostosis (DSD) in the longest known survivor. DSD is a rare form of autosomal recessive vertebral dysotosis recently identified to be caused by a mutation in the BMPER gene. This condition is characterized by absent or severely delayed ossification of vertebral bodies, short broad thorax, short neck, protuberant abdomen, marked respiratory insufficiency, and normal appendicular skeleton.

Will psychoanalysis fulfill its promise?

Although Freud had aspirations of a university structure for psychoanalytic education the sociopolitical structure of the Austro-Hungarian empire precluded this, and psychoanalysis developed by default in the central European heartland within a part-time, private-practice educational structure. With its rapid spread in the post-World-War-II United States, and its ready penetration of American academic psychiatry, a counter educational structure arose in some quarters: the department-of-psychiatry-affiliated institute within the medical school. This article outlines beyond these other, more ambitious, academic vistas (the David Shakow model, the Anna Freud model, the Menninger Foundation, Emory University (USA), AP de BA (Argentina)); conceptions even closer to the ideal (idealized) goal of full-time placement within the university, with strong links to medicine, to the behavioral sciences and to the humanities.