9 results on '"Molay F"'
Search Results
2. The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
- Author
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Nagy A, Molay F, Hargadon S, Brito Pires C, Grant N, De La Rosa Abreu L, Chen JY, D'Souza P, Macnamara E, Tifft C, Becker C, Melo De Gusmao C, Khurana V, Neumeyer AM, and Eichler FS
- Subjects
- Humans, Cross-Sectional Studies, Mutation, Missense genetics, Receptors, Cytoplasmic and Nuclear genetics, Repressor Proteins genetics, Neurodevelopmental Disorders
- Abstract
Background: TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood., Methods: We developed and distributed a survey to two closed Facebook groups devoted to families of patients with TBL1XR1-related disorder. The survey consisted of 14 subsections focused upon the developmental trajectories of cognitive, behavioral, motor, and other neurological abnormalities. Data were collected and managed using REDCap electronic data capture tools., Results: Caregivers of 41 patients with a TBL1XR1-related disorder completed the cross-sectional survey. All reported variants affecting a single amino acid, including missense mutations and in-frame deletions, were found in the WD40 repeat regions of Tbl1xr1. These are domains considered important for protein-protein interactions that may plausibly underlie disease pathology. The majority of patients were diagnosed with a neurologic condition before they received their genetic diagnosis. Language appeared most significantly affected with only a minority of the cohort achieving more advanced milestones in this domain., Conclusion: TBL1XR1-related disorder encompasses a spectrum of clinical presentations, marked by early developmental delay ranging in severity, with a subset of patients experiencing developmental regression in later childhood., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
3. Restless Legs Syndrome in X-linked adrenoleukodystrophy.
- Author
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Winkelman JW, Grant NR, Molay F, Stephen CD, Sadjadi R, and Eichler FS
- Subjects
- Adult, Female, Humans, Male, Middle Aged, Pilot Projects, Prevalence, Quality of Life, Retrospective Studies, Severity of Illness Index, Surveys and Questionnaires, Young Adult, Adrenoleukodystrophy complications, Adrenoleukodystrophy epidemiology, Neurodegenerative Diseases, Restless Legs Syndrome
- Abstract
Objective/background: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease that causes progressive gait and balance problems. Leg discomfort, sleep disturbances, and pain contribute to daily disability. We sought to investigate the prevalence and severity of Restless Legs Syndrome (RLS) in patients with ALD., Patients/methods: We administered questionnaires and conducted diagnostic telephone interviews to assess RLS severity. We retrospectively extracted data from neurological examinations, functional gait measures, and laboratory assessments., Results and Conclusions: Thirty-two adults with ALD (21 female, 11 male) were recruited to participate. Thirteen patients (40.6%) had RLS (10/21 females and 3/11 males). The median age of RLS onset was 35 years [IQR = 22-54]. Patients with RLS had more signs and symptoms related to myelopathy, but not the brain demyelination seen in ALD. This pilot study suggests a high prevalence of RLS in adults with ALD, which may contribute to sleep problems and impair quality of life., (Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
4. Fear of harm, a possible phenotype of pediatric bipolar disorder: a dimensional approach to diagnosis for genotyping psychiatric syndromes.
- Author
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Papolos D, Mattis S, Golshan S, and Molay F
- Subjects
- Bipolar Disorder psychology, Child, Depressive Disorder, Major diagnosis, Depressive Disorder, Major genetics, Depressive Disorder, Major psychology, Diagnosis, Differential, Diagnostic and Statistical Manual of Mental Disorders, Female, Genetic Linkage, Genetic Predisposition to Disease genetics, Humans, Male, Personality Assessment, Prognosis, Bipolar Disorder diagnosis, Bipolar Disorder genetics, Fear, Genotype, Harm Reduction, Phenotype
- Abstract
Background: In a prior concordance study of affected sibling pairs with a community diagnosis of pediatric bipolar disorder (PBD) a behavioral phenotype termed Fear of Harm (FOH) was found to have one of the strongest concordance coefficients (rho) between probands and siblings, and the widest contrasts between the rho-estimates for the proband/sibling vs. proband/comparison pairs [Papolos, D., Hennen, J., Cockerham, M.S, Lachman, H., 2007]. A strategy for identifying phenotypic subtypes: concordance of symptom dimensions between sibling pairs who met screening criteria for a genetic linkage study of childhood-onset bipolar disorder using the Child Bipolar Questionnaire (CBQ) was employed. J. Affect. Disord. 99, 27-36.]. We used the Child Bipolar Questionnaire (OUT) (CBQ) to further elucidate this behavioral phenotype of PBD. We hypothesized that selective factors including parent reported symptoms of mania and depression, would be distinguishing features of impairment between groups defined by 1) the magnitude of their score on a continuous measure of FOH, and 2) the high FOH group would have significantly greater levels of severity on course of illness variables. These measures included earlier age of onset of first psychiatric symptoms, first hospitalization, and frequency of psychiatric hospitalizations, as well as, degree of social impairment as determined by exposure to the juvenile justice system and school performance problems., Methods: The sample was comprised of children with community diagnoses of bipolar disorder or at risk for the illness based on enriched family history with multiple first degree relatives diagnosed with BPD (N=5335). Included were all subjects who had >40 positively endorsed CBQ symptom items at frequencies of very often, almost always, and always. This group was divided randomly into two groups, the exploratory group (N=2668) and the hypothesis testing (study) group (N=2666). The exploratory group was used for the development of hypotheses and the study group was used to test these hypotheses on a new set of data. All results reported here derive from the latter group. In subsequent analyses, we classified each child as having a high degree of FOH, low FOH, or no FOH. We examined a subset of the sample for differences in age of onset of first psychiatric symptoms, course of illness and measures of symptom severity. These groups were compared using the chi-square procedure for categorical data and the Analysis of Variance (ANOVA) with Scheffe pair wise tests for continuous variables. The Child Bipolar Questionnaire V.2.0, the Yale-Brown Obsessive Compulsive Scale (YBOCS) and the Overt Aggression Scale (OAS) were the principal instruments used to obtain diagnostic information for this study., Results: We found that children representative of the FOH phenotype when compared to children with PBD who lack this trait had higher indices of severity of mania and depression, as well as other indices that reflect severity and course of illness. Trait factors were derived from a factor analysis of CBQ in a large population of children diagnosed with or at risk for PBD, and used to further elucidate trait features of children with FOH. Children with the FOH traits were also more likely to be defined by six CBQ factors; Sleep/Arousal, Harm to Self and Others, Territorial Aggression, Anxiety, Self-esteem, Psychosis/Parasomnias/Sweet Cravings/Obsessions (PPSO)., Limitations: This data is derived from samples enriched with bipolar disorder cases. Further validation is needed with samples in which childhood-onset BD is rarer and diagnoses more diverse. Clinician diagnosis was not validated via research interview., Conclusions: The FOH phenotype, as defined by a metric derived from combining items from the YBOCS/OAS, is a clinically homogeneous behavioral phenotype of PBD with early age of onset, severe manic and depressive symptoms, and significant social impairment that is strongly associated with 6 CBQ factors and can be easily identified using the CBQ. Through the examination of dimensional features of PBD in an enriched sample of large size, we were able to further refine a phenotype and identify clinical dimensions potentially linked to endophenotypic markers that may prove fruitful in differential diagnosis, treatment and etiological studies of PBD. The nature of the sets of specific symptoms that comprise the FOH factors enabled us to propose a biological model for the phenotype (OUT) that involves a complex orexigenic circuit which links hypothalamic, limbic, and other brain nuclei primarily responsible for the regulation of behavioral and proposed physiological features of the FOH phenotype.
- Published
- 2009
- Full Text
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5. Longitudinal follow-up of reproductive and metabolic features of valproate-associated polycystic ovarian syndrome features: A preliminary report.
- Author
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Joffe H, Cohen LS, Suppes T, Hwang CH, Molay F, Adams JM, Sachs GS, and Hall JE
- Subjects
- Adolescent, Adult, Antimanic Agents therapeutic use, Bipolar Disorder complications, Bipolar Disorder drug therapy, Body Mass Index, Female, Follow-Up Studies, Hirsutism chemically induced, Humans, Hyperandrogenism chemically induced, Longitudinal Studies, Middle Aged, Overweight, Polycystic Ovary Syndrome metabolism, Testosterone blood, Valproic Acid therapeutic use, Antimanic Agents adverse effects, Metabolism drug effects, Polycystic Ovary Syndrome chemically induced, Polycystic Ovary Syndrome complications, Reproduction drug effects, Valproic Acid adverse effects
- Abstract
Background: In the Systematic Treatment Enhancement Program for Bipolar Disorder, we showed that valproate is associated with new-onset menstrual-cycle irregularities and hyperandrogenism in 10.5% of 86 women. We now determine whether polycystic ovarian syndrome (PCOS) features reverse on valproate discontinutation., Methods: Women with valproate-associated PCOS and those at risk for PCOS (valproate use < or =6 months) were re-evaluated for PCOS., Results: Follow-up (mean 17 months) assessments were completed in 14 women (5 with treatment-emergent PCOS, 9 on valproate < or =6-month). Of seven women who developed valproate-associated PCOS, PCOS reproductive features remitted in three of four discontinuing valproate and persisted in all 3 continuing valproate. Menstrual-cycle irregularities improved among valproate-discontinuers whose PCOS features remitted (p = 0.01). There was a trend toward lower serum testosterone (p = 0.06). Body-weight and polycystic ovarian morphology did not change., Conclusions: In the first longitudinal bipolar-disorder study of valproate-associated PCOS, most valproate-discontinuers had improved reproductive features of PCOS despite static body-weight.
- Published
- 2006
- Full Text
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6. Danish norms for the Harvard group scale of hypnotic susceptibility, form A.
- Author
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Zachariae R, Sommerlund B, and Molay F
- Subjects
- Adult, Cross-Cultural Comparison, Denmark, Female, Humans, Male, Massachusetts, Middle Aged, United States, Hypnosis, Suggestion
- Abstract
Norms for a Danish adaptation of the Harvard Group Scale of Hypnotic Susceptibility, Form A (HGSHS:A) are presented. Four samples tested from 1988 to 1991 (n = 166, n = 54, n = 95, and n = 61) were pooled, resulting in an aggregate sample of 376 participants. The normative data were generally congruent with earlier normative studies with regard to score distribution, item difficulty levels, and reliability. Studies using the Danish adaptation of the HGSHS:A as a screening instrument have shown the predictive value of the instrument in a Danish context. Data for a comparable American sample of volunteers (n = 170) tested by the same hypnotist were included in the analysis. A comparison revealed a marked difference for the posthypnotic suggestion item, hinting that cultural differences between the Danish and American samples with regard to expectancies and attitudes toward hypnosis may play a role. Further studies comparing attitudes toward hypnosis across different cultural contexts are needed to clarify this issue.
- Published
- 1996
- Full Text
- View/download PDF
7. A history of psychiatric consultation in America.
- Author
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Friedman RS and Molay F
- Subjects
- Adult, Child, History, 19th Century, History, 20th Century, Humans, Patient Care Team history, United States, Hospitals, Psychiatric history, Mental Disorders history, Psychiatry history, Referral and Consultation history
- Abstract
Consultation-liaison psychiatry emerged in a particular socio-historical context, following a major shift of medicine into a more scientific, hospital-based system. Psychiatrists realized that they needed to move outside of the asylum and reintegrate themselves with the new structures of medicine, especially the general hospital and the medical school. Psychosomatic theory and psychoanalytic influence shaped the emergence of consultation-liaison activities in the 1930s through 1950s as they shaped most psychiatric services in the United States at that time, but they were an epiphenomenon to this powerful underlying dynamic that dictated psychiatry's move into the medical hospital. The experience of other countries tends to confirm this hypothesis, though a comparative history is limited by the strong postwar US influence. Pediatric consultation-liaison had a somewhat different evolution, reflecting the later emergence of pediatrics itself as a field and its strong psychosocial and preventive medicine emphasis.
- Published
- 1994
8. Effect of hypnotic suggestion on the delayed-type hypersensitivity response.
- Author
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Locke SE, Ransil BJ, Zachariae R, Molay F, Tollins K, Covino NA, and Danforth D
- Subjects
- Adult, Analysis of Variance, Antigens, Viral, Female, Humans, Intradermal Tests, Male, Prospective Studies, Psychophysiology, Skin Temperature immunology, Herpes Zoster immunology, Hypersensitivity, Delayed psychology, Hypnosis
- Abstract
Objective: To determine whether individuals selected for good general health, high hypnotizability, and the ability to alter skin temperature under hypnotic suggestion can influence the delayed-type hypersensitivity (DTH) response to varicella-zoster (VZ) antigen under hypnotic suggestion., Design: A blinded clinical trial using a repeated measures design with subjects serving as their own controls. Subjects were randomly assigned to undergo a predetermined sequence of four different experimental conditions, occurring at weekly intervals, with each condition including VZ skin testing: (1) hypnosis with suggestions to enhance the DTH response to VZ antigen; (2) hypnosis with suggestions to suppress the DTH response; (3) hypnosis with suggestions for relaxation only; and (4) skin testing without hypnosis., Setting: A National Institutes of Health-supported clinical research center in a teaching hospital., Subjects: A stratified sample of 24 ambulatory, healthy, highly hypnotizable, volunteer college students selected for their above-average ability to alter skin temperature after hypnotic suggestions and their positive baseline responses to VZ antigen. There were 11 males and 13 females with a mean +/- SD age of 22 +/- 6 years. The mean +/- SD hypnotizability score (Harvard Group Scale of Hypnotic Susceptibility) was 11 +/- 1., Interventions: Intradermal skin testing with VZ antigen (Mantoux method) and hypnotic suggestion., Main Outcome Measures: Areas of induration of the DTH response measured at 24 and 48 hours after injection of antigen., Results: The area of the DTH response was not affected by the experimental interventions. The area of erythema was likewise unaffected., Conclusions: Our subjects were unable to alter their DTH responses using hypnotic suggestion.
- Published
- 1994
9. Statistical packages for the Macintosh.
- Author
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Friedman R, Molay F, and Locke S
- Subjects
- Humans, Computer Systems standards, Software Validation, User-Computer Interface
- Abstract
These programs represent the entry of the Mac into major statistical computing. We believe that for the physician researcher who is not a statistician, they make the Mac the platform for data analysis. We found that statistics, research design, and data analysis seemed different and much less intimidating to us and our trainees when approached through the Mac. We have reviewed the versions of these programs available at the time of this writing, in May 1992; potential buyers should contact the software publisher for information about more recent upgrades. At this point, our recommendations would be as follows: If you are wedded to SPSS or Minitab, try the Mac versions, and you will be impressed. Otherwise, the choice is between SYSTAT, which has been around long enough to demonstrate its richness and capacity to build on its strengths, and JMP, a brash newcomer, which demonstrates that you can teach an old dog (SAS) new tricks. StatView and SuperANOVA, while endowed with intuitive, easy-to-use interfaces, lack online help--a feature we consider important in a statistics package. We anticipate that the future will lead to simplification of the SYSTAT interface and the addition of more analytic capacities to JMP--and who knows what the next generation of competitors will bring?
- Published
- 1992
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