Office versus Home-Based Family Therapy for Runaway, Alcohol Abusing Adolescents: Examination of Factors Associated with Treatment Attendance

There is a dearth of research examining treatment engagement and attendance among runaway youth and their families. Such research is needed in order to inform treatment providers on factors associated with engagement and maintenance of these difficult to engage families into counseling. This study examined differential treatment attendance for alcohol abusing runaway youth residing at a local shelter. A traditional office-based family systems approach, Functional Family Therapy (FFT), was compared to a non-traditional, home-based, multi-systemic family therapy approach, Ecologically Based Family Therapy (EBFT). As expected, treatment engagement and attendance was significantly higher for those assigned to EBFT (N = 37) compared to FFT (N = 40). Predictors of treatment attendance (income, family chaos, externalization problems and level of youth substance use) were examined within each treatment modality. Findings suggest that home-based (compared to office-based) treatment modalities may significantly increase treatment attendance and engagement of runaway youth and their families. Non-traditional forms of treatment may need to be considered in order to best meet the needs of highly chaotic and disorganized family systems.     

No Worries, No Cares: An Investigation into Self-Reported "Nondistress" in College Students

An important methodological issue in depressionanalog research is whether individuals who scoreextremely low on self-report measures like the BeckDepression Inventory (BDI) should be included innondepressed control groups. Joiner, Schmidt, and Metalsky(1994) found that college students with BDI scores of 0or 1 evidenced a fake-good test taking style as measuredby the MMPI validity scales. The present study investigated whether very low BDI scores (BDI= 0 or 1; n = 21) might be associated with an elevatedpositive mood state, extreme optimism, positiveattributional style or social desirability. Resultsindicated that the very low scoring BDI subjects scoredhigher on social desirability than the low scoring group(BDI = 2 9, n = 63). Significant differences on mood,symptom and cognitive measures disappeared when social desirability was entered as a covariate.Findings support Kendall, Hollon, Beck, Hammen, andIngram's (1987) recommendation that subjects who score0 or 1 on the BDI should be excluded from a nondepressed control group.     

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1

We report an infant with multiple congenital anomalies, including craniosynostosis, tetralogy of Fallot variant, and limb anomalies associated with a maternal deletion of 15q15-22.1. Only two other patients have been reported with a similar deletion, but the deletion was paternal in both cases. We review our patient's findings and compare them to previously reported individuals with similar 15q abnormalities. Our patient allows an expansion of phenotype associated with mid-15q deletions to include severe craniosynostosis, congenital heart disease, and limb anomalies. This will assist in prenatal counseling and predicting postnatal outcome for other affected individuals. The specific breakpoints in our patient and the other patients with similar deletions may also assist in determining a critical region for suture formation.     

Neuromuscular defects in a Drosophila survival motor neuron gene mutant

Autosomal recessive spinal muscular atrophy (SMA) is linked to mutations in the survival motor neuron (SMN) gene. The SMN protein has been implicated at several levels of mRNA biogenesis and is expressed ubiquitously. Studies in various model organisms have shown that the loss of function of the SMN gene leads to embryonic lethality. The human contains two genes encoding for SMN protein and in patients one of these is disrupted. It is thought the remaining low levels of protein produced by the second SMN gene do not suffice and result in the observed specific loss of lower motor neurons and muscle wasting. The early lethality in the animal mutants has made it difficult to understand why primarily these tissues are affected. We have isolated a Drosophila smn mutant. The fly alleles contain point mutations in smn similar to those found in SMA patients. We find that zygotic smn mutant animals show abnormal motor behavior and that smn gene activity is required in both neurons and muscle to alleviate this phenotype. Physiological experiments on the fly smn mutants show that excitatory post-synaptic currents are reduced while synaptic motor neuron boutons are disorganized, indicating defects at the neuromuscular junction. Clustering of a neurotransmitter receptor subunit in the muscle at the neuromuscular junction is severely reduced. This new Drosophila model for SMA thus proposes a functional role for SMN at the neuromuscular junction in the generation of neuromuscular defects.     

A case of broken bones and systems: The threat of irresponsible testimony

A 2‐month‐old healthy baby presented to the emergency room with an arm that was not moving and was found to have multiple and extensive fractures of her long bones. An extensive medical work‐up was done, and the hospital's multidisciplinary child abuse team was consulted, including child protection, genetics, radiology, and general pediatrics. It was determined that the history, clinical findings, radiographic findings, and laboratory findings were consistent with child abuse. Child protection services removed the child from the home, and for the next 10 months, the infant was well, and did not sustain a single new fracture. At a civil proceeding to determine the infant's custody, an expert witness for the defense concluded that the child had hypermobile Ehlers‐Danlos syndrome and low vitamin D. He stated that because of these conditions, the baby was vulnerable to fractures with routine handling. This is a personal story of a clinical geneticist who explored fracture fact versus fracture fiction and learned about the difference between responsible and irresponsible testimony. This story gives insight into how physicians can prepare to transition from the clinic to the courtroom. It is also a story about how medical experts must and should remain unbiased, evidence‐based, and committed to accuracy and truth.     

Lymphatic endothelial cell identity is reversible and its maintenance requires Prox1 activity

The activity of the homeobox gene Prox1 is necessary and sufficient for venous blood endothelial cells (BECs) to acquire a lymphatic endothelial cell (LEC) fate. We determined that the differentiated LEC phenotype is a plastic, reprogrammable condition that depends on constant Prox1 activity for its maintenance. We show that conditional down-regulation of Prox1 during embryonic, postnatal, or adult stages is sufficient to reprogram LECs into BECs. Consequently, the identity of the mutant lymphatic vessels is also partially reprogrammed as they acquire some features typical of the blood vasculature. siRNA-mediated down-regulation of Prox1 in LECs in culture demonstrates that reprogramming of LECs into BECs is a Prox1-dependent, cell-autonomous process. We propose that Prox1 acts as a binary switch that suppresses BEC identity and promotes and maintains LEC identity; switching off Prox1 activity is sufficient to initiate a reprogramming cascade leading to the dedifferentiation of LECs into BECs. Therefore, LECs are one of the few differentiated cell types that require constant expression of a certain gene to maintain their phenotypic identity.