Pharmacotherapy of Chronic Neuropsychiatric Conditions During Pregnancy.

Many pregnant persons will experience neuropsychiatric conditions during pregnancy, including migraine, attention deficit disorder, depression, and anxiety. Treatment of each of these conditions requires shared decision-making among the individual, family, and health care team. Although medications may include risk, the benefits often outweigh the potential fetal risks. In this article, we review pharmacologic treatment options for each of these conditions and appropriate use in pregnancy to maintain the stability of conditions and to optimize maternal and fetal outcomes.

Contraceptive use in patients with gender dysphoria who were assigned female at birth receiving care at a specialty gender-affirming clinic.

BACKGROUND: The Centers for Disease Control and Prevention (CDC) recommend that all patients, regardless of gender identity or sexual orientation, should be offered family planning and contraceptive options without assumptions of sexual behaviors and pregnancy risk. Current research on family planning services for lesbian, gay, bisexual, transgender, and queer or questioning patients is limited, but patients who are sexual or gender minorities are at increased risk for unintended pregnancy. OBJECTIVES: The objective of this study was to describe contraceptive use in patients assigned female at birth with gender dysphoria at a gender-affirming primary care clinic. METHODS: A retrospective descriptive study was conducted. Patients were included if they were 18 to 44 years old, received care at University of New Mexico Truman Health Services in 2019, were diagnosed with gender dysphoria, and were assigned female at birth. Patients were excluded if they had never developed female reproductive organs. Data were collected from the electronic medical records. Potential differences in contraceptive use based on demographic characteristics, having a family planning discussion, and having a contraceptive use discussion were analyzed using chi-square analyses. Potential predictors of contraceptive use were identified using exploratory forward conditional logistic regression and univariate logistic regression analyses. RESULTS: A total of 163 patients were included; average age was 26.6 years; 71% identified as male, 5% identified as masculine, and 25% identified as nonbinary. Most patients (92%) were prescribed masculinizing therapy (testosterone). Forty-five (28%) patients had documented contraception use; the most common form was permanent contraception (76%). Most patients (68%) did not have any documented contraindications to contraception based on CDC US Medical Eligibility Criteria for contraceptive use. Of 113 patients with a documented sexual orientation, 45 patients (40%) reported having sex with persons who have a penis; only 13 (29%) of those patients had a documented form of contraception. Family planning discussions were documented for 82% of patients. Family planning discussions that specifically addressed contraception were documented in only 49% of patients. However, the odds of a patient having a documented use of contraception was 9.26 times higher when family planning discussions specifically addressed contraception. CONCLUSION: Documented contraception use was low in people assigned female at birth of childbearing age receiving care at a gender-affirming clinic. Due to increased risks of unintended pregnancy in this population and the teratogenic nature of testosterone, family planning discussion should also include discussions related to contraception, as this was associated with increased contraception use. Additional research is needed to address potential barriers to contraception use in this population.

Patient perspectives and needs regarding contraception in female patients with HIV: A qualitative study.

BACKGROUND: Women with human immunodeficiency virus (HIV) are at risk of unintended pregnancy and may experience barriers to accessing contraception such as social stigma, concern for drug-drug interactions with HIV regimens, cost, and access to care. As pharmacist prescriptive authority for contraception becomes more prevalent, pharmacists may play a role in expanding access to contraception for women with HIV. Little is known about perspectives in this population regarding pharmacists prescribing contraception. OBJECTIVES: The objective of our study was to explore participants' experiences with contraception and childbearing, identify barriers to receiving contraception and unmet needs for contraceptive services, and explore perspectives on pharmacists prescribing contraception among women with HIV receiving care at a specialty HIV clinic. METHODS: This qualitative study used semistructured phone interviews with female patients receiving care at the University of New Mexico Truman Health Services in Albuquerque, New Mexico (NM). Interviews were transcribed verbatim and analyzed by 2 independent coders using Dedoose software. RESULTS: Contraception use was high in our population, with 75% of participants reporting a current contraceptive method. Among our population, participants were supportive of pharmacists prescribing contraception. Participants appreciated that pharmacies were accessible and convenient and that pharmacists are well trained and able to manage drug-drug interactions. Participants expressed a preference for pharmacists to explain all available contraceptive options and to have a thorough understanding of their medical history and medications. Participants expressed concern about privacy and disclosure of their HIV status when receiving contraception from a pharmacist. CONCLUSION: Among our population of women with HIV receiving care at a specialty clinic in NM, participants were supportive of pharmacists prescribing contraception. Pharmacists should consider the preferences of this population when prescribing contraception. Further research is warranted in additional populations of women with HIV to further explore unique perspectives among non-English speaking patients and those who do not receive care at specialty clinics.

Transitions of care from the womb to the world: Implementation of inpatient neonatal med rec.

BACKGROUND: Medication use during pregnancy is common. Safety of fetal medication exposures is an important consideration for pregnancy and for pharmacologic management and care of newborns. OBJECTIVES: The objective of this study was to describe the impact of implementing a neonatal medication reconciliation service at an acute-care hospital. PRACTICE DESCRIPTION: A neonatal medication reconciliation process was implemented at the University of New Mexico Hospital, a level 4 maternity center in a 500-bed academic medical center. Pharmacy personnel identified inpatient pregnant and postpartum patients who required medication reconciliation. In addition to performing maternal medication reconciliation, clinically significant medication exposures that occurred during pregnancy were recorded for neonates. PRACTICE INNOVATION: Our neonatal medication reconciliation process evaluated prenatal "medication use" via a maternal medication history. We considered our medication reconciliation to be occurring during a "transition" from in utero to being born, which, to the best of our knowledge, has not been commonly reported as a transition of care in which pharmacists may play a role. EVALUATION METHODS: We conducted a retrospective descriptive chart review of patients who had both maternal and neonatal medication reconciliation services performed. We collected demographics, comorbidities, medications, and clinically significant exposures from the medication reconciliation note. RESULTS: A total of 384 charts were included in the final analysis. Of these, 167 medication reconciliations (43.5%) identified at least one medication history problem and 97 medication histories (25.3%) identified at least one potentially clinically significant neonatal medication exposure. PRACTICE IMPLICATIONS: Although several limitations exist, a neonatal medication reconciliation process can be implemented in any inpatient setting with pharmacy staff available to perform and record reconciliation. CONCLUSION: Opportunities for pharmacist involvement in pregnancy, postpartum, and neonatal care are expected to increase. Further research is warranted to more clearly determine the maternal and neonatal benefits of this medication reconciliation process and to link fetal exposures to outcomes.

Implementation of pharmacy access to hormonal contraception.

BACKGROUND: States throughout the country are enacting legislation to authorize pharmacist prescribing of hormonal contraception to decrease barriers to access. Little is known about the process of state implementation of pharmacist prescriptive authority for hormonal contraception. OBJECTIVES: To understand the state-level steps to enable pharmacist prescribing of hormonal contraception, including implementation challenges and facilitators. METHODS: We conducted a qualitative study of interviews with 18 key individuals, including pharmacists and other stakeholders, from ten states with laws permitting pharmacist-prescribed hormonal contraception from March 2021 to April 2022. We analyzed data using directed qualitative analysis principles and compared experiences across states. We organized the data using the Consolidated Framework for Implementation Research framework and evaluated relevant constructs in states' implementation efforts. RESULTS: Participants identified four key steps to implement pharmacist prescribing at the state level, including development of state rules and regulations, educational programs, reimbursement mechanisms, and expansion strategies to pharmacists and pharmacies. Participants identified early involvement of key stakeholders and a culture of support for clinical pharmacists as facilitators to implementation. Challenges included complexity and cost of billing mechanisms, lack of funding for implementation efforts, and competing priorities of pharmacies/pharmacists. CONCLUSION: Participants in states with pharmacist prescriptive authority for hormonal contraception identified development of reimbursement and billing mechanisms as the most critical state-level step in implementation. Focusing on facilitators of key steps can guide states in developing successful implementation strategies to improve contraceptive access.

One-year Thyroglobulin Levels as a Predictive Measure for Recurrence and Need for Continued Surveillance in Treated Differentiated Thyroid Cancer.

PURPOSE: Patients with differentiated thyroid cancer (DTC) undergo posttreatment surveillance for several years. We aim to better define an excellent response to therapy using thyroglobulin (TG) and thyroglobulin antibody (TGab) levels at 1-year to tailor appropriate length of surveillance. METHODS: Patients with DTC who underwent surgical treatment with or without adjuvant radioiodine therapy were followed with standard American Thyroid Association surveillance. TG and TGab levels at 1-year posttreatment were used to define 3 cohorts: undetectable TG (<0.5 ng/mL), detectable TG (≥0.5 ng/mL), and positive TGab (>1 IU/mL). The rates of structural recurrence and the trends of TG and TGab were compared. RESULTS: Of the 268 study patients at 1-year, 210 (78%) had undetectable TG, 29 (11%) had detectable TG, and 29 (11%) had positive TGab. The overall structural recurrence rate was 18/268 (7%): undetectable TG at 1 year, 3/210 (1%), detectable TG at 1-year, 11/29 (38%), and positive TGab at 1-year, 4/29 (13%). At the last follow-up, 196/210 (93%) patients with undetectable TG at 1-year continued to have undetectable TG levels. Regarding patients with detectable TG at 1-year, in 11/29 (38%), detectable TG was converted to undetectable TG at the last follow-up without additional treatments. Of those with positive TGab at 1 year, 6/29 (21%) had resolution of TGab and undetectable TG levels at the last follow-up without additional treatments. CONCLUSION: One year after treatment of DTC, TG levels <0.5 ng/mL, in the absence of TGab, are associated with an exceedingly low risk of recurrence suggesting that further surveillance may not be warranted.

Correction: Professional Development of Behavior Analysts in Europe: A Snapshot for 21 Countries.

[This corrects the article DOI: 10.1007/s40617-022-00754-0.].

Contraceptive Use and Missed Opportunities for Family Planning Discussions in Women Living with Human Immunodeficiency Virus at an HIV Clinic.

The objective of this study was to examine contraception use and family planning discussions (FPD) in female people living with HIV (PLWH). A retrospective cohort study was conducted. Female PLWH were included if they were 18-44 years and received care in 2019 at an HIV clinic. 74 patients met inclusion; mean age was 35 years, 53% were white. All patients were prescribed antiretroviral therapy. 48.6% of patients had documented FPD. 64.9% of patients were using contraception; sterilization was most common (41.7%). Only five patients had a contraindication to hormonal contraception. No differences in contraception use were observed based on age, race, HIV viral load, number of visits, or past pregnancies. However, patients with documented FPD were more likely to use contraception (OR 4.55; 95% CI 1.35-15.29). Routine FPD and contraception use in female PLWH were low. Rates of sterilization were high in female PLWH. Providing quality family planning services is critical to increase contraception use and selection of the most appropriate contraception form.

Professional Development of Behavior Analysts in Europe: A Snapshot for 21 Countries.

Behavior analysts are not recognized or regulated as a distinct profession in Europe. For the most part, European behavior analysts adhered to the standards set by the U.S.-based Behavior Analyst Certification Board (BACB). However, the BACB certification has not been recognized officially in any European jurisdiction. The recent decision by the BACB to discontinue eligibility of non-U.S. residents to apply for the BCBA exam by the end of 2022 has brought the issue of professional regulation outside of the United States into sharp focus. This article offers a snapshot in time of professional recognition of behavior analysts in 21 European countries. It stems from the Erasmus+ funded EuroBA project and its Professional Advisory Group (PAG). The EuroBA project aims to develop common standards and competences for behavior analysts to facilitate national regulation and mutual recognition across Europe.

Perspectives on pharmacy access to hormonal contraception among rural New Mexico women.

OBJECTIVE: In 2017, New Mexico approved an amendment allowing pharmacists to prescribe and dispense hormonal contraception. We interviewed rural New Mexico women to determine their perceptions of pharmacy access to hormonal contraception. STUDY DESIGN: We conducted semi-structured telephone interviews with women recruited from rural New Mexico communities. The interview guide explained the amendment followed by questions about the advantages and disadvantages of pharmacy access to hormonal contraception within rural communities. RESULTS: Between November 2017 and May 2018, we recruited 32 women to participate. Participants were young (26/32 18-29 years old), gravid (27/31), employed (30/32), white (22/32) and Hispanic (26/31). The majority used Medicaid as their primary insurance (16/28). Most participants were supportive of pharmacy access to hormonal contraception. Participants saw their rural communities as facing health care barriers, some of which could be alleviated by pharmacy access. Perceived benefits of pharmacy access included convenience of pharmacy hours, shorter wait times, and no need for an appointment. Participants expressed concerns about lack of privacy in their pharmacies. Many expressed trust in their pharmacist to review side effects and explain usage of contraception- a role that was considered separate from that of a primary care provider who offers regular medical visits for routine screening and nuanced or complex discussions about contraception. Some participants expressed that pharmacy access could be especially beneficial for teens. CONCLUSIONS: Rural New Mexico women were supportive of pharmacy access to contraception and accept pharmacists as trusted members of the health care team. IMPLICATIONS: Rural New Mexico women find benefit in pharmacy access to hormonal contraception, citing improved access to contraceptives in their communities.

Evaluation of an opioid restrictive pain management initiative in adult kidney transplant recipients.

PURPOSE: Evidence to guide opioid utilization following kidney transplantation is lacking. The purpose of this study is to evaluate the implementation of an opioid restrictive post-operative pain management protocol in adult kidney transplant recipients. METHODS: We analyzed patients who underwent kidney transplant between 1/1/2017 to 8/15/2018. A standardized, opioid restrictive pain management protocol was implemented in February 2018. The primary outcome was quantity of opioid tablets prescribed at discharge. Secondary outcomes included amount of opioid prescribed within first 30 days, number of patient calls for pain, and opioid prescription in electronic medical record (EMR) at 90 days and 1 year. RESULTS: After implementation, significantly fewer opioid tablets were prescribed at discharge (4 vs. 60 tablets, p < .001) and less oral morphine milligram equivalence (OME) were prescribed within 30 days of transplant (38 vs. 300, p < .001). In cohort 2, fewer patients received more than one opioid prescription, more patients received truncal block and only 5 patients received patient controlled analgesia compared to all in cohort 1. CONCLUSION: A standardized, patient-centered pain management strategy after kidney transplantation reduced opioid prescribing without increasing readmissions or clinic calls. This data may be used to inform guidelines for appropriate OME prescribing at discharge after kidney transplantation.

Pharmacists' perspectives and experience prescribing hormonal contraception in rural and urban New Mexico.

BACKGROUND: Pharmacist prescription of contraception is becoming increasingly common in the United States (US). Limited information exists on whether this is improving access to contraception in underserved areas, including rural America. OBJECTIVE: We sought to determine whether there were differences by rural location in pharmacists' willingness to prescribe hormonal contraception and perceived barriers to doing so. METHODS: We conducted a cross-sectional survey of pharmacists eligible to prescribe hormonal contraception in New Mexico in March and May 2020. The survey consisted of demographic data, pharmacists' experience prescribing hormonal contraception, and questions regarding perceived barriers to pharmacist-prescribed hormonal contraception. Descriptive statistics assessed differences in survey responses between rural and urban pharmacists. We used multivariable logistic regression to estimate the association between rural practice and prescribing hormonal contraception. RESULTS: Our sampling frame consisted of 822 licensed pharmacists. We received 256 responses, for a response rate of 31.1%. We found that rural pharmacists were as likely as their urban counterparts to prescribe hormonal contraception (adjusted odds ratio 1.22 [95% CI 0.56-2.68], P = 0.50). Five main barriers included a need for additional training, reimbursement for services, liability concerns, corporate policies, and shortage of staff. No difference in barriers were identified by rural location or staff role. CONCLUSION: Pharmacy access has the potential to improve access to contraception across New Mexico, including underserved rural areas.

Fostering Passion and Skills in Surgical Research Across the Medical Education Continuum: The Transplant Research, Education, and Engagement Group.

OBJECTIVE: We describe a multilevel, collaborative research group for trainees and faculty engaging in transplant surgery research within one institution. DESIGN: Transplant Research, Education, and Engagement (TREE) was designed to develop trainees' research skills and foster enthusiasm in transplant surgery along the educational continuum. Our research model intentionally empowers junior researchers, including undergraduates and medical students, to assume active roles on a range of research projects and contribute new ideas within a welcoming research and learning environment. SETTING: Section of Transplant Surgery, Department of Surgery, Michigan Medicine, Ann Arbor, Michigan. PARTICIPANTS: Undergraduate premedical students, first through fourth year medical students, general surgery residents, transplant surgery fellows, and transplant surgery faculty. RESULTS: TREE was founded in September 2019 and has grown to include over 30 active members who meet weekly and collaborate virtually on a range of research projects, many of which are led by students. Trainees can assume both mentee and mentor roles and build their research, presentation and writing skills while collaborating academically. CONCLUSIONS: Our model has increased trainees' engagement in transplant research projects and fosters early enthusiasm for the field. This model can be feasibly replicated at other institutions and within other subspecialties.

Perspectives on prescribing hormonal contraception among rural New Mexican pharmacists.

OBJECTIVES: New Mexico is a large rural state with high rates of unintended pregnancy and limited access to contraception. In 2017, the New Mexico Pharmacist Prescriptive Authority Act was amended to allow pharmacists to prescribe hormonal contraception. We explored pharmacist perspectives on prescribing hormonal contraceptives, including perceived barriers and facilitators to implementation in rural New Mexico and opinions on over-the-counter (OTC) access, and prescribing and inserting subdermal contraceptive implants. METHODS: This qualitative study recruited rural pharmacists using contact information from the New Mexico Board of Pharmacy and at a state-level pharmacist conference. We conducted semistructured telephone interviews with pharmacists focusing on benefits and concerns about prescribing hormonal contraception, resources required, perspectives on OTC access, and interest in prescribing and placing contraceptive implants. Deidentified transcribed interviews were analyzed by 2 independent coders for emerging themes. RESULTS: From November 2017 to January 2018, we recruited 25 rural pharmacists and conducted 21 interviews. The majority of participants were male (71%), aged over 60 years (43%), and in practice for over 20 years (52%). Interviewees were mostly positive about prescribing hormonal contraception citing community benefits. The top 3 perceived barriers were training needs, reimbursement, and liability. The top 3 facilitators were the availability of private areas within pharmacies, pharmacists' role as knowledgeable health care team members, and pharmacist accessibility without appointments. Most pharmacists did not support OTC access to hormonal contraception, and over half were interested in certification to prescribe and place subdermal contraceptive implants. CONCLUSION: New Mexico pharmacists identified community benefits of pharmacy access to hormonal contraception and were interested in training. Several barriers must be addressed to realize the potential of this practice expansion.

Are injured workers with higher rehabilitation service utilization less likely to be persistent opioid users? A cross-sectional study.

BACKGROUND: Given its role in treating musculoskeletal conditions, rehabilitation medicine may be an important factor in decreasing the use of opioids among injured workers. The primary objective was to determine if increased utilization of rehabilitation services was associated with decreased persistent opioid use among workers' compensation claimants. The secondary objective was to determine the combined association of rehabilitation service utilization and persistent opioid use with days of work lost due to injury. METHODS: Using Chesapeake Employers' Insurance Company claims data from 2008 to 2016, claimants with at least one filled opioid prescription within 90 days of injury were eligible for inclusion. The primary outcome was persistent opioid use, defined as at least one filled opioid prescription more than 90 days from injury. The secondary outcome was days lost due to injury. The primary variable of interest, rehabilitation service utilization, was quantified based on the number of rehabilitation service claims and grouped into five levels (no utilization, and four quartiles - low, medium, high, very high). RESULTS: Of the 9596 claimants included, 29% were persistent opioid users. Compared to claimants that did not utilize rehabilitation services, patients with very high rehabilitation utilization were nearly three times more likely (OR: 2.71, 95% CI: 2.28-3.23, p < 0.001) to be persistent opioid users and claimants with low and medium levels of rehabilitation utilization were less likely to be persistent opioid users (low OR: 0.20, 95%: 0.14-0.27, p < 0.001) (medium OR: 0.26, 95% CI: 0.21-0.32, p < 0.001). Compared to claimants that did not utilize rehabilitation services, very high rehabilitation utilization was associated with a 27% increase in days lost due to the injury (95% CI: 21.9-32.3, p < 0.001), while low (- 16.4, 95% CI: -21.3 - -11.5, p < 0.001) and medium (- 11.5, 95% CI: -21.6 - -13.8, p < 0.001) levels of rehabilitation utilization were associated with a decrease in days lost due to injury, adjusting for persistent opioid use. CONCLUSION: Our analysis of insurance claims data revealed that low to moderate levels of rehabilitation was associated with reduced persistent opioid use and days lost to injury. Very high rehabilitation utilization was associated with increased persistent opioid use and increased time from work.

Factors Associated With Persistent Opioid Use Among Injured Workers' Compensation Claimants.

Importance: There is a paucity of data on persistent opioid use and factors associated with persistent opioid use among workers' compensation claimants. Objective: To determine the proportion of injured workers who filled an opioid prescription beyond 90 days from injury and the factors associated with persistent opioid use among workers' compensation claimants. Design, Setting, Participants: This retrospective cohort study collected workers' compensation claims data from January 1, 2008, to December 31, 2016, from the Chesapeake Employers' Insurance Company in Maryland. All workers' compensation claimants injured during the study years and with at least 1 filled opioid prescription were eligible for inclusion. For patients who had unique injury claims in multiple years of the study, only the first claimed injury was included in our analysis. Patients who died as a result of the claimed injury were excluded. The analysis was performed between October 2017 and August 2018. Main Outcomes and Measures: The primary outcome was persistent opioid use, defined as an opioid prescription fulfillment beyond 90 days from the date of injury. Multivariable regression was used to determine prognostic factors of persistent opioid use. Results: Of the 9596 study participants (mean [SD] age, 43 [12.3] years; 6218 [65.1%] male), 2741 (28.6%) filled an opioid prescription more than 90 days from their date of injury. Participants aged 60 years or older (odds ratio [OR], 1.92; 95% CI, 1.56-2.36), crush injuries (OR, 1.55; 95% CI, 1.28-1.89), strain and sprain injuries (OR, 1.54; 95% CI, 1.36-1.75), annual income more than $60 000 (OR, 1.31; 95% CI, 1.07-1.61), and concomitant diagnoses for chronic joint pain (OR, 1.98; 95% CI, 1.79-2.20) were significantly associated with persistent opioid use. Compared with workers with claims designated as permanent partial disability, workers with medical-only claims were significantly less likely to have persistent opioid use at 90 days postinjury (OR, 0.17; 95% CI, 0.15-0.20). Conclusions and Relevance: A high proportion of persistent opioid use was observed in this workers' compensation cohort. Interventions to lower persistent opioid use in this population should target patients with the characteristics identified in this study.

Continued administration of ciliary neurotrophic factor protects mice from inflammatory pathology in experimental autoimmune encephalomyelitis.

Multiple sclerosis is an inflammatory disease of the central nervous system that leads to loss of myelin and oligodendrocytes and damage to axons. We show that daily administration (days 8 to 24) of murine ciliary neurotrophic factor (CNTF), a neurotrophic factor that has been described as a survival and differentiation factor for neurons and oligodendrocytes, significantly ameliorates the clinical course of a mouse model of multiple sclerosis. In the acute phase of experimental autoimmune encephalomyelitis induced by myelin oligodendrocyte glycoprotein peptide 35-55, treatment with CNTF did not change the peripheral immune response but did reduce the number of perivascular infiltrates and T cells and the level of diffuse microglial activation in spinal cord. Blood brain barrier permeability was significantly reduced in CNTF-treated animals. Beneficial effects of CNTF did not persist after it was withdrawn. After cessation of CNTF treatment, inflammation and symptoms returned to control levels. However, slight but significantly higher numbers of oligodendrocytes, NG2-positive cells, axons, and neurons were observed in mice that had been treated with high concentrations of CNTF. Our results show that CNTF inhibits inflammation in the spinal cord, resulting in amelioration of the clinical course of experimental autoimmune encephalomyelitis during time of treatment.

A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

Febrile seizures (FS) syndromes exhibit major clinical and genetic heterogeneity. We report a clinical and genetic study of three families with simple FS segregating as an autosomal dominant (AD) trait with high penetrance. All affected members presented a homogeneous phenotype of simple FS. The FS ceased before the age of 5 years. Among the 29 affected family members, only one patient presented two afebrile seizures, and none of the others developed concomitant or subsequent epilepsy. The phenotype differs from that previously reported in families presenting FS or generalized epilepsy with febrile seizures plus (GEFS+). After exclusion of already known loci for FS and GEFS+, we performed a genome-wide scan in the largest family. It led to the identification of a new locus on chromosome 6q22-q24 spanning 6.4 cM between D6S1620 and D6S975. For one of the other two families, the trait also segregated with this locus, but linkage studies could not restrict the candidate region further. The absence of linkage in the third family supports genetic heterogeneity of the AD form of pure simple FS. Sequence analysis excluded the implication of five candidate genes [A kinase anchoring protein 18 (AKAP18), syntaxin 7, putative neurotransmitter receptor (PNR), G protein receptor 57 (GPR57) and G protein receptor 58 (GPR58)] in the interval based on function. The locus mapping to 6q22-q24 seems to be the first identified locus responsible for pure simple FS, the most frequent form of FS. Studies are ongoing to identify the gene.