The Black Caribs (Garifuna) of Livingston, Guatemala: Genetic Markers and Admixture Estimates

This is the published version. Copyright 1981 Wayne State University Press.The Black Caribs (Garifuna) are descendants of West African and Amerindian groups from St. Vincent Island who were transplanted to the coast of Central America in 1797. The founding population, estimated at 2,500 to 5,000 persons, gave rise to 65,000 Black Caribs who presently reside in 54 fishing villages spread geographically from Stann Creek (Dangriga), Belize, to LaFe, Nicaragua. This paper documents the genetic variation observed for 24 blood group, red blood cell and serum protein systems in one of the Black Carib communities of Livingston, Guatemala. Admixture estimates, based upon Gm, suggest the following parental population contribution for Livingston: 70% African, 29% Indian and 1% European

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies

Myotonic dystrophy (DM) is a well-defined autosomal dominant disorder characterized by myotonia, muscle weakness, cardiac conduction defects, cataracts, and endocrine abnormalities. Recently a newly recognized disorder, similar to but distinct from DM, has been observed with multisystem findings including intermittent myotonia, proximal myopathy, and occasional cardiac conduction disturbances. This disorder has been called proximal myotonic myopathy (PROMM). No history of anticipation is present and there is no linkage to the gene locus for DM or to the loci for the muscle sodium or chloride channels. This report describes a family with a normal size of the CTG trinucleotide repeat expansion of the DM gene in which affected individuals have myotonia (intermittent, exacerbated by cold), bilateral cataracts, mild hypogonadism and mild temporal atrophy. Affected individuals also have proximal muscle weakness, facial involvement, nonspecific abnormalities on muscle biopsy, normal cardiac conduction, and no glucose intolerance. The absence of trinucleotide repeat expansion in the DM gene is consistent with this family being affected by a disorder distinct from DM, possibly a form of PROMM

A Lifestyle Medicine Clinic in a Community Pharmacy Setting

Chronic diseases continue to be a significant burden to the health care system. Pharmacists have been able to show that drug therapy for patients with chronic diseases can be improved through medication therapy management (MTM) services but have yet to become significantly involved in implementing lifestyle modification programs to further control and prevent chronic conditions. A novel and innovative lifestyle medicine program was started by pharmacists in a community pharmacy in 2008 to more comprehensively prevent and manage chronic conditions. The lifestyle medicine program consists of designing seven personalized programs for patients to address physical activity, nutrition, alcohol consumption, weight control, stress management, sleep success, and tobacco cessation (if needed). The lifestyle medicine program complements existing MTM services for patients with hypertension, dyslipidemia, and/or diabetes. This program is innovative because pharmacists have developed and implemented a method to combine lifestyle medicine with MTM services to not only manage chronic conditions, but prevent the progression of those conditions and others. Several innovative tools have also been developed to enhance the effectiveness of a lifestyle medicine program. This manuscript describes the program's pharmacy setting, pharmacy personnel, participants and program details as well as the tools used to integrate a lifestyle medicine program with MTM services. Type: Clinical Experienc

A Lifestyle Medicine Clinic in a Community Pharmacy Setting

Chronic diseases continue to be a significant burden to the health care system. Pharmacists have been able to show that drug therapy for patients with chronic diseases can be improved through medication therapy management (MTM) services but have yet to become significantly involved in implementing lifestyle modification programs to further control and prevent chronic conditions. A novel and innovative lifestyle medicine program was started by pharmacists in a community pharmacy in 2008 to more comprehensively prevent and manage chronic conditions. The lifestyle medicine program consists of designing seven personalized programs for patients to address physical activity, nutrition, alcohol consumption, weight control, stress management, sleep success, and tobacco cessation (if needed). The lifestyle medicine program complements existing MTM services for patients with hypertension, dyslipidemia, and/or diabetes. This program is innovative because pharmacists have developed and implemented a method to combine lifestyle medicine with MTM services to not only manage chronic conditions, but prevent the progression of those conditions and others. Several innovative tools have also been developed to enhance the effectiveness of a lifestyle medicine program. This manuscript describes the program's pharmacy setting, pharmacy personnel, participants and program details as well as the tools used to integrate a lifestyle medicine program with MTM services. Type: Clinical Experienc

Prospective open-label study of add-on and monotherapy topiramate in civilians with chronic nonhallucinatory posttraumatic stress disorder

BACKGROUND: In order to confirm therapeutic effects of topiramate on posttraumatic stress disorder (PTSD) observed in a prior study, a new prospective, open-label study was conducted to examine acute responses in chronic, nonhallucinatory PTSD. METHODS: Thirty-three consecutive newly recruited civilian adult outpatients (mean age 46 years, 85% female) with DSM-IV-diagnosed chronic PTSD, excluding those with concurrent auditory or visual hallucinations, received topiramate either as monotherapy (n = 5) or augmentation (n = 28). The primary measure was a change in the PTSD Checklist-Civilian Version (PCL-C) score from baseline to 4 weeks, with response defined as a ≥ 30% reduction of PTSD symptoms. RESULTS: For those taking the PCL-C at both baseline and week 4 (n = 30), total symptoms declined by 49% at week 4 (paired t-test, P < 0.001) with similar subscale reductions for reexperiencing, avoidance/numbing, and hyperarousal symptoms. The response rate at week 4 was 77%. Age, sex, bipolar comorbidity, age at onset of PTSD, duration of symptoms, severity of baseline PCL-C score, and monotherapy versus add-on medication administration did not predict reduction in PTSD symptoms. Median time to full response was 9 days and median dosage was 50 mg/day. CONCLUSIONS: Promising open-label findings in a new sample converge with findings of a previous study. The use of topiramate for treatment of chronic PTSD, at least in civilians, warrants controlled clinical trials

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures (juvenile audiogenic monogenic seizure 1, jams1) in mice and autosomal recessive deafness DFNB15 and DFNB95 in humans. Gipc3 localizes to inner ear sensory hair cells and spiral ganglion. A missense mutation in the PDZ domain has an attenuating effect on mechanotransduction and the acquisition of mature inner hair cell potassium currents. Magnitude and temporal progression of wave I amplitude of afferent neurons correlate with susceptibility and resistance to audiogenic seizures. The Gipc3343A allele disrupts the structure of the stereocilia bundle and affects long-term function of auditory hair cells and spiral ganglion neurons. Our study suggests a pivotal role of Gipc3 in acoustic signal acquisition and propagation in cochlear hair cells

Role for a Novel Usher Protein Complex in Hair Cell Synaptic Maturation

The molecular mechanisms underlying hair cell synaptic maturation are not well understood. Cadherin-23 (CDH23), protocadherin-15 (PCDH15) and the very large G-protein coupled receptor 1 (VLGR1) have been implicated in the development of cochlear hair cell stereocilia, while clarin-1 has been suggested to also play a role in synaptogenesis. Mutations in CDH23, PCDH15, VLGR1 and clarin-1 cause Usher syndrome, characterized by congenital deafness, vestibular dysfunction and retinitis pigmentosa. Here we show developmental expression of these Usher proteins in afferent spiral ganglion neurons and hair cell synapses. We identify a novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1. To establish the in vivo relevance of this complex, we performed morphological and quantitative analysis of the neuronal fibers and their synapses in the Clrn1−/− mouse, which was generated by incomplete deletion of the gene. These mice showed a delay in neuronal/synaptic maturation by both immunostaining and electron microscopy. Analysis of the ribbon synapses in Ames waltzerav3J mice also suggests a delay in hair cell synaptogenesis. Collectively, these results show that, in addition to the well documented role for Usher proteins in stereocilia development, Usher protein complexes comprised of specific protein isoforms likely function in synaptic maturation as well

The Black Caribs (Garifuna) of Livingston, Guatemala: Genetic Markers and Admixture Estimates

The Black Caribs (Garifuna) are descendants of West African and Amerindian groups from St. Vincent Island who were transplanted to the coast of Central America in 1797. The founding population, estimated at 2,500 to 5,000 persons, gave rise to 65,000 Black Caribs who presently reside in 54 fishing villages spread geographically from Stann Creek (Dangriga), Belize, to LaFe, Nicaragua. This paper documents the genetic variation observed for 24 blood group, red blood cell and serum protein systems in one of the Black Carib communities of Livingston, Guatemala. Admixture estimates, based upon Gm, suggest the following parental population contribution for Livingston: 70% African, 29% Indian and 1% European