Clinical and Sociodemographic Features of Alopecia Areata in Five Colombian Cities: An Analysis of the RENAAC Registry.

BACKGROUND: Alopecia areata (AA) is an autoimmune disease characterized by non-scaring hair loss and preservation of hair follicles. The information available on disease course, and clinical features of AA is scarce worldwide, and almost nonexistent in Colombia. OBJECTIVE: To determine the clinical and sociodemographic characteristics of patients diagnosed with AA who presented to a dermatology consultation in five Colombian cities. MATERIAL AND METHODS: This was a retrospective and multicenter study on data from an ongoing National Registry of Alopecia Areata in Colombia (RENAAC) collected in Bogota, Cali, Cartagena, Barranquilla, and Medellin, Colombia from March 2022 through April 2023. Data was recorded in a standardized form by trained physicians. The variables were expressed as measures of central tendency and dispersion, and absolute and relative frequencies. RESULTS: A total of 562 patients were included, 59.4% of whom were women, aged between 15 and 49 years (63.9%) with a mean disease course of 1.7 years. The most common finding was multiple plaque (53.2%), the predominant AA subtype was patchy (71.4%), and 29.5% of the patients had a past dermatological history, 18.3% had a past endocrinological history, and 8.9% had a past psychiatric history. The treatments most widely used were steroid injections (76.4%), 5% topical minoxidil (46.4%), followed by high-potency corticosteroids (42.5%). STUDY LIMITATIONS AND CONCLUSIONS: AA was slightly predominant in women. As seen in other populations, this disease had an earlier onset in men vs women. Presentation in pediatric age was uncommon. The previous history of other dermatological diseases was checked in almost one third of the patients. Analysis of the co-presentation of AA with other autoimmune diseases is biased due to excluding patients with systemic erythematous lupus from the study.

A smoking cessation induction intervention via virtual reality headset during a dental cleaning: protocol for a randomized controlled trial.

BACKGROUND: Effective smoking cessation programs exist but are underutilized by smokers, especially by disadvantaged smokers. Cessation interventions in dental settings have been shown to be effective, but are not consistently delivered due to provider burden and lack of training, especially on how to counsel smokers who are not motivated to quit. METHODS: This study is a 2-arm, phase III longitudinal randomized controlled efficacy trial to motivate utilization of evidenced based treatments (EBTs) for smoking cessation (e.g., state quitline, clinic-based counseling, the National Cancer Institute's text message program, and pharmacotherapy). Patients attending an urban dental clinic (n = 376) will be randomized to an intervention group (INT; smoking cessation induction video delivered via VR headset during their teeth cleaning, brochure about EBTs, and a 4-week text message program) or control group (CTRL; relaxation video delivered via VR headset during teeth cleaning, the same brochure as INT, and assessment-only text messages). Assessments will occur at baseline, immediately after the clinic appointment, one-month post-appointment and 3-and 6 months later. We hypothesize INT will be more likely to contact EBTs vs CTRL and have greater utilization rates of EBTs. Secondary objectives are to test the efficacy of INT on point-prevalence smoking abstinence, quit smoking attempts, and motivation to quit vs. CTRL. DISCUSSION: Incorporating smoking cessation into a dental clinic visit and targeting all smokers, regardless of motivation to quit, provides proactive reach to cigarette smokers who otherwise may not seek treatment for smoking. TRIAL REGISTRATION: NCT04524533 Registered August 24, 2020.

Hypofractionated whole breast irradiation after IORT treatment is safe in patients receiving adjuvant chemotherapy

Introduction Hypofractionated whole breast irradiation (hWBI) and intraoperative radiotherapy (IORT) could be associated in breast cancer patients showing high-risk factors of local recurrence after breast conserving therapy (BSC). The aim of this trial was to evaluate, for the first time, the toxicity and cosmesis of hWBI after photon-IORT in high-risk patients treated by adjuvant chemotherapy. Materials and methods Thirty-one high-risk localized breast cancer patients treated by BCS, IORT (20 Gy), and adjuvant chemotherapy were included from February 2019 to August 2020 in this prospective trial, of hWBI (40.5 Gy/2.67 Gy/15 fractions). Acute and late toxicity (CTCAEv5.0) and cosmesis (Harvard scale), were assessed after treatment. Results All patients completed their treatment and were evaluable after treatment. No patients showed severe (G3) acute/late toxicity. Excellent/good cosmesis at least 6 months after completing the treatment, was present in 93.6% of the patients. Conclusion hWBI in high-risk localized breast cancer patients treated by chemotherapy seems to have similar toxicity and cosmetic results than conventionally fractionated WBI in combination to photon-IORT after BCS (AU)

Hypofractionated whole breast irradiation after IORT treatment is safe in patients receiving adjuvant chemotherapy.

INTRODUCTION: Hypofractionated whole breast irradiation (hWBI) and intraoperative radiotherapy (IORT) could be associated in breast cancer patients showing high-risk factors of local recurrence after breast conserving therapy (BSC). The aim of this trial was to evaluate, for the first time, the toxicity and cosmesis of hWBI after photon-IORT in high-risk patients treated by adjuvant chemotherapy. MATERIALS AND METHODS: Thirty-one high-risk localized breast cancer patients treated by BCS, IORT (20 Gy), and adjuvant chemotherapy were included from February 2019 to August 2020 in this prospective trial, of hWBI (40.5 Gy/2.67 Gy/15 fractions). Acute and late toxicity (CTCAEv5.0) and cosmesis (Harvard scale), were assessed after treatment. RESULTS: All patients completed their treatment and were evaluable after treatment. No patients showed severe (G3) acute/late toxicity. Excellent/good cosmesis at least 6 months after completing the treatment, was present in 93.6% of the patients. CONCLUSION: hWBI in high-risk localized breast cancer patients treated by chemotherapy seems to have similar toxicity and cosmetic results than conventionally fractionated WBI in combination to photon-IORT after BCS.

Hypofractionated whole breast irradiation after IORT treatment: evaluation of acute toxicity and cosmesis

Introduction Hypofractionated whole breast irradiation (HWBI) is the current standard of treatment after breast conservative surgery (BCS). Intraoperative radiotherapy (IORT) must be associated to WBI in patients showing high-risk factors of local recurrence in the definitive pathology report. The aim of this trial was to evaluate, for the first time, the acute toxicity and cosmesis of HWBI after photon-IORT. Materials and methods Twenty-six luminal breast cancer patients treated by BCS and IORT(20 Gy) were included between February and December 2019, in this prospective trial, of adjuvant HWBI (40.5 Gy/2.67 Gy/15 fractions). Acute toxicity (CTCAEv5.0) and cosmesis (Harvard scale), were assessed 3 months after treatment. Results All patients completed their treatment without interruptions. All cases were evaluable 3 months after treatment showing no toxicity ≥ G3 and excellent/good cosmesis assessment in 88% of the patients. Conclusion HWBI seems to have similar acute toxicity and cosmesis results than conventionally fractionated WBI in combination to photon-IORT after BCS (AU)

Hypofractionated whole breast irradiation after IORT treatment: evaluation of acute toxicity and cosmesis.

INTRODUCTION: Hypofractionated whole breast irradiation (HWBI) is the current standard of treatment after breast conservative surgery (BCS). Intraoperative radiotherapy (IORT) must be associated to WBI in patients showing high-risk factors of local recurrence in the definitive pathology report. The aim of this trial was to evaluate, for the first time, the acute toxicity and cosmesis of HWBI after photon-IORT. MATERIALS AND METHODS: Twenty-six luminal breast cancer patients treated by BCS and IORT(20 Gy) were included between February and December 2019, in this prospective trial, of adjuvant HWBI (40.5 Gy/2.67 Gy/15 fractions). Acute toxicity (CTCAEv5.0) and cosmesis (Harvard scale), were assessed 3 months after treatment. RESULTS: All patients completed their treatment without interruptions. All cases were evaluable 3 months after treatment showing no toxicity ≥ G3 and excellent/good cosmesis assessment in 88% of the patients. CONCLUSION: HWBI seems to have similar acute toxicity and cosmesis results than conventionally fractionated WBI in combination to photon-IORT after BCS.

[Diagnosis and treatment of adjusment disorder in primary care]. / Diagnóstico y tratamiento del trastorno de adaptación en Atención Primaria.

Adjustment disorder (AD) corresponds to the combination of affective, cognitive and behavioral symptoms that appear after a stressful event. It is a frequent reason for consultation in primary care and is one of the most common diagnoses in suicide attempts attended in the emergency department. Its essential feature is that the symptoms must appear in direct relation to an event perceived as stressful, so it tends to be transitory if the event ceases or the patient adapts. The mainstay of treatment are psychosocial interventions, aimed at modifying the event or its consequences, supporting adaptation and optimizing resources to cope with the event. However, prescription of psychotropic drugs is favored in practice, when its use should be limited to symptomatic relief. This highlights the need to properly identify and treat it. This article presents the strategies for diagnosis and treatment of AD in primary care.

Mucinosis linfedematosa asociada a obesidad. reporte de un caso y revisión de la literatura / Lymphedematous mucinosis associated with obesity. a case report and review of the literature

RESUMEN: La mucinosis linfedematosa asociada a obesidad es una dermatosis de reciente reconocimiento que corresponde al grupo de mucinosis cutáneas focales. Presenta un curso clínico caracterizado por la aparición progresiva de lesiones asintomáticas en las piernas de pacientes que concomitantemente cursan con obesidad y linfedema secundario en miembros inferiores.Su diagnóstico implica reconocer otros tipos de mucinosis cutáneas y realizar el diagnóstico diferencial respectivo, de acuerdo con el contexto clínico en el que se presenten las lesiones. Una vez establecido el diagnóstico, su manejo terapéutico debe ir dirigido a lograr una disminución significativa en el peso.

ABSTRACT: Lymphedematous mucinosis associated with obesity is a recently recognized dermatosis that corresponds to the group of focal cutaneous mucinosis. It presents a characteristic clinical course consisting of the progressive and asymptomatic appearance of lesions in the legs of adults who concomitantly have obesity and lymphedema secondary in the lower limbs, as in the clinical case that we will discuss. After having made the differential diagnosis with other possible types of cutaneous mucinosis, according to the clinical context in which the lesions occur, therapeutic management should be aimed at achieving a significant decrease in weight.

Experimental infection of conventional newly-weaned piglets with porcine astrovirus.

The presence of porcine astroviruses in diarrheic and healthy pigs has been reported, however, the consequences of the astrovirus infection during the weaning process have not been described. In this study, eight healthy conventional newly-weaned piglets were used to evaluate effects of astrovirus infection during the first five days. Four piglets were infected with the porcine astrovirus PoAstV/PUJP5 strain and the other four represented the control group. Body weight, rectal temperature, diarrhea and other clinical signs were monitored every 24 hours. The results showed that all animals gained body weight, the occurrence of mild diarrhea on the 3rd day post-infection, and the astroviral presence in diarrheic samples. On the 5th day post-infection all the piglets were euthanized and then intestinal and extra-intestinal tissues were analyzed for the presence of PoAstV/PUJP5. The cytoplasmic antigen of PoAstV/PUJP5 was observed in the enterocytes of infected piglets from jejunum, ileum, colon and in inflammatory cells from mesenteric lymph nodes. In addition, villi atrophy, fusion, epithelial hyperplasia and incipient virus detection in mesenteric lymph were observed. RNAemia could not be proved. This study shows for the first time the effects of porcine astrovirus infection on conventional newly-weaning piglets. Keywords: porcine astrovirus; newly-weaned piglets.

Antimicrobial activity of Austroeupatorium inulaefolium (H.B.K.) against intracellular and extracellular organisms.

The antimicrobial activity of Austroeupatorium inulaefolium (H.B.K.) essential oil was studied in different pathogens species and its cytotoxicity activity was determinated on different cellular lines. Despite the good antibacterial activity of A. inulaefolium, it has been cytotoxic at low concentrations. Consequently it might be interesting to determine the antimicrobial activity and cytotoxicity of the major compounds of this essential oil.

A Nomogram to predict parotid gland overdose in head and neck IMRT.

PURPOSES: To generate a nomogram to predict parotid gland (PG) overdose and to quantify the dosimetric benefit of weekly replanning based on its findings, in the context of intensity-modulated radiotherapy (IMRT) for locally-advanced head and neck carcinoma (LAHNC). MATERIAL AND METHODS: Twenty LAHNC patients treated with radical IMRT underwent weekly computed tomography (CT) scans during IMRT. The cumulated PG dose was estimated by elastic registration. Early predictors of PG overdose (cumulated minus planned doses) were identified, enabling a nomogram to be generated from a linear regression model. Its performance was evaluated using a leave-one-out method. The benefit of weekly replanning was then estimated for the nomogram-identified PG overdose patients. RESULTS: Clinical target volume 70 (CTV70) and the mean PG dose calculated from the planning and first weekly CTs were early predictors of PG overdose, enabling a nomogram to be generated. A mean PG overdose of 2.5Gy was calculated for 16 patients, 14 identified by the nomogram. All patients with PG overdoses >1.5Gy were identified. Compared to the cumulated delivered dose, weekly replanning of these 14 targeted patients enabled a 3.3Gy decrease in the mean PG dose. CONCLUSION: Based on the planning and first week CTs, our nomogram allowed the identification of all patients with PG overdoses >2.5Gy to be identified, who then benefitted from a final 4Gy decrease in mean PG overdose by means of weekly replanning.

How many patients with post-chikungunya chronic inflammatory rheumatism can we expect in the new endemic areas of Latin America?

Post-chikungunya chronic inflammatory rheumatism (pCHIK-CIR) is one of the consequences that are impacting new endemic countries, such as those in the Americas. The relative frequency of pCHIK-CIR is highly variable, ranging from 14.4 % to 87.2 % (including variable number of patients and follow-up times). Based on those non-weighted values, it is difficult to estimate which would be the expected number of patients with CHIK who will develop CIR. For these reasons, we modeled weighted estimations based on pooled data extracted from those eight representative studies in order to provide cumulative proportion of pCHIK-CIR over time and median time of it, but also estimations of the number of patients with CHIK reported in Latin American countries (within a 95 % CI). This model estimated a prevalence of 47.57 % for pCHIK-CIR (95 % CI 45.08-50.13), with a median time to 50 % of pCHIK-CIR in 20.12 months. Given the reported number of patients with acute CHIK during 2014 in the Americas, our estimates suggest that from those patients, 385,835-429,058 patients will develop pCHIK-CIR. Despite the limitations of these estimates, the provided figures of pCHIK-CIR presented here are preliminary approximations of what the future burden of related rheumatic disease in the region as a consequence of CHIK infection for 2015-2016 could be, given the timeframe of median time of occurrence.

Recent advancements in toxicity prediction following prostate cancer radiotherapy.

In external beam radiotherapy for prostate cancer limiting toxicities for dose escalation are bladder and rectum toxicities. Normal tissue complication probability models aim at quantifying the risk of developping adverse events following radiotherapy. These models, originally proposed in the context of uniform irradiation, have evolved to implementations based on the state-of-the-art classification methods which are trained using empirical data. Recently, the use of image processing techniques combined with population analysis methods has led to a new generation of models to understand the risk of normal tissue complications following radiotherapy. This paper overviews those methods in the case of prostate cancer radiation therapy and propose some lines of future research.

Neuroimaging findings of the post-treatment effects of radiation and chemotherapy of malignant primary glial neoplasms.

Post-treatment radiation and chemotherapy of malignant primary glial neoplasms present a wide spectrum of tumor appearances and treatment-related entities. Radiologic findings of these post-treatment effects overlap, making it difficult to distinguish treatment response and failure. The purposes of this article are to illustrate and contrast the imaging appearances of recurrent tumor from necrosis and to discuss other radiologic effects of cancer treatments. It is critical for radiologists to recognize these treatment-related effects to help direct clinical management.

HEPATIC LESIONS IN CATTLE GRAZING ON Brachiaria decumbens IN MESETAS, META (COLOMBIA) / LESIONES HEPÁTICAS EN BOVINOS MANTENIDOS EN PASTURAS DE Brachiaria decumbens EN MESETAS, META (COLOMBIA)

Brachiaria spp. is the predominate pasture grass for cattle grazing in the Orinoco watershed in Colombia. However, it has been recognized that this grass can cause liver damage, leading to photosensitization in ruminants; such injury is caused by the steroidal saponins found in this plant. Liver samples taken from five clinically-healthy bulls' left and right liver lobes and portal vein entrance were processed by routine histological techniques to evaluate liver lesions caused by Brachiaria decumbens in cattle grazing on Colombia's Eastern plains. The main lesions observed in these tissues were mononuclear cell cholangiohepatitis, foamy macrophages, moderate bile pigment accumulation, hepatocyte death, binucleated hepatocytes, moderate bile duct hyperplasia and multiple foci of mild fibrosis in portal areas; these were corroborated by Masson's trichrome staining. Such lesions were predominantly distributed at the portal vein entrance, frequently being located in the periportal region. This type of lesion has usually been attributed to Brachiaria decumbens consumption, and was present in clinically healthy animals exclusively feeding on this type of grass. Thus we conclude that the tissue alterations found herein were caused by Brachiaria decumbens. This research should be expanded to involve a larger selection of cattle populations, throughout a broader geographical region.

En la Orinoquía colombiana hay una considerable cantidad de ganado bovino que se alimenta predominantemente de Brachiaria spp. Sin embargo, se ha reconocido que esta pastura puede ocasionar daño hepático y posterior fotosensibilización en rumiantes, por las saponinas esteroidales que contiene. Con el propósito de evaluar las lesiones hepáticas en ganado bovino procedente de los Llanos Orientales colombianos, se tomaron y procesaron, mediante técnicas histológicas de rutina, muestras de hígado de los lóbulos derecho e izquierdo, así como de la entrada de la vena porta de cinco toros clínicamente sanos. Las principales lesiones observadas en estos tejidos fueron colangiohepatitis mononuclear, macrófagos espumosos, acumulación moderada de pigmentos biliares, muerte de hepatocitos, hepatocitos binucleados, moderada hiperplasia de ductos biliares y múltiples focos de fibrosis leve en áreas periportales, que fueron corroborados por tinción tricrómica de Masson. Estas lesiones se distribuyeron predominantemente en la entrada de la vena porta y se localizaron con frecuencia en la entrada de la región periportal. Dado que estas lesiones se atribuyen comúnmente al consumo de Brachiaria decumbens, y estaban presentes en animales clínicamente sanos exclusivamente alimentados con esta pastura, se concluye que las lesiones aquí encontradas fueron causadas por la Brachiaria decumbens. Se sugiere ampliar este estudio involucrando más bovinos, granjas y municipios.

The sacral hiatus approach for drainage of anterior lumbo-sacral epidural abscesses. A case report and technical note.

Lumbosacral epidural abscesses are managed either conservatively with IV antibiotics or with open surgery, particularly in the presence of acute neurological symptoms. Their location makes it difficult for image-guided interventional approaches either for biopsy or evacuation. We report the sacral hiatus and canal as a corridor for image-guided minimally invasive abscess of lumbosacral epidural abscess for aspiration. A 56-year-old man presented to the emergency department complaining of six weeks of worsening low back pain. MRI of the patient's lumbosacral spine showed osteomyelitis involving his L5, S1 vertebrae, L5-S1 discitis, as well as an anterior epidural abscess extending from L4-5 disc space to the S2 vertebral level. Blood cultures grew out gram-positive cocci. For drainage, a 5-French micropuncture kit was utilized to access the hiatus. Under fluoroscopic guidance a microwire was then advanced along the sacral canal. An 18-gauge needle curved to approximate the contours of the sacral canal was then advanced over the guidewire. Once anatomic access was established 2 ml of thick purulent material was aspirated. The patient tolerated the procedure well, and no focal nerve root symptoms were noted following the procedure. Image-guided aspiration of lumbosacral epidural abscesses can thus be carried out in a safe and effective manner using a sacral hiatus approach.

Adaptación de una cepa compatible con Acidithiobacillus ferrooxidans sobre concentrados de calcopirita (CuFeS2), esfalerita (ZnS) y galena (PbS) / Adaptation of a strain Acidithiobacillus ferrooxidans compatible on concentrates of chalcopyrite (CuFeS2), sphalerite (ZnS) and galena (PbS)

En este estudio se evaluó la adaptación de una cepa compatible con Acidithiobacillus ferrooxidans a altas densidades de pulpa de calcopirita, esfalerita y galena, con dos distribuciones de tamaño de partícula, -200 y -325 serie Tyler de tamices. Los microorganismos fueron adaptados por la disminución gradual de la fuente principal de energía, sulfato ferroso, y el aumento en el contenido de mineral, para finalmente realizar un subcultivo sin la adición de fuente de energía externa. La realización de subcultivos en serie resultó ser una estrategia eficaz para la adaptación a altas densidades de pulpa de esfalerita, calcopirita y galena indicando que el protocolo empleado es adecuado. Los resultados muestran que la cepa compatible con Acidithiobacillus ferrooxidans es más resistente a altas concentraciones de esfalerita, seguido por calcopirita y finalmente por galena. El tamaño de partícula juega un papel fundamental en la adaptación de los microorganismos al mineral.

In this study the adaptation of Acidithiobacillus ferrooxidans-like to high concentrations of chalcopyrite, sphalerite and galena were evaluated with two mineral-particle sizes: 200 and 325 Tyler mesh. The strain was adapted using two simultaneous processes. The first one consisted in a gradual decreasing of the main energy source, ferrous sulphate. The second one consisted in a gradual increasing of the mineral content. Finally, a test was made without ferrous sulphate. The serial subculturing was found to be an efficient strategy to adapt Acidithiobacillus ferrooxidans-like to higher concentrations of chalcopyrite, sphalerite and galena. This indicates that a suitable protocol was employed. The results showed that Acidithiobacillus ferrooxidans-like is more resistant to high concentration of sphalerite, chalcopyrite and galena in descendant order. The particle size played an important role in the adaption of microorganism to the mineral.

Nevus melanocítico intradérmicocongénito gigante. «El niño tortuga(testudines)»: Caso clínico / Giant congenital melanocytic nevus

Presentamos el caso de un paciente de 2 años de edad, conocido en su pueblo, como “el niño tortuga (testudines)”debido a la gran similitud con dicho reptil. Desdese nacimiento presentó nevus melanocítico gigante localizado en región torácica posterior, región lumbosacra y lesiones satélites en extremidades y abdomen, de 50 por40cm de diámetro y color café oscuro; la piel en las zonas afectadas es gruesa con grandes surcos de aspecto corrugado (cerebriforme).El nombre dado al niño se basa en la similitud de sus lesiones con la morfología de una tortuga, ya que el caparazón cubre la zona superior, inferior y lateral del cuerpo de este animal, de la misma forma que el nevus gigante lo hacía en el caso de nuestro paciente. Este caparazón está formado por placas óseas revestidas de placas corneas, que se asemejan a los surcos de aspecto corrugado que conforman el nevus melanocítico gigante. Los estudios clínicos practicados revelaron compromiso cardiovascular, hepático y esplénico, así como una desfavorable evolución y pronostico del cuadro clínico, por lo que esta patología, específicamente para este niño de acuerdo a la junta Médico-Quirúrgica y valoraciones, fue considerada inoperable (AU)

We present the case of a 2 years-old patient, known in his town as “turtle boy”(testudines) due to his great simility with this reptile because of his giant congenital melanocytic nevus, located in the posterior and lateral aspect of the chest and in smaller proportion in abdomen and extremities, of 50 by 40cm and dark brown colour. The skin in this zone is thick with great furrows and corrugated aspect. He was called “turtle boy” based on the morphology of the turtle, its shell covers the superior, inferior and lateral zone like in our patient’s case. It is formed bygone layers covered by cornea layers, which resemble the furrows and corrugated aspect of the giant congenital melanocytic nevus. Medical investigation reveals association with cardiovascular, hepatic and splenic compromise. According to the Clinical and Surgical Committee evaluation was inoperable (AU)

A narrow and highly significant linkage signal for severe bipolar disorder in the chromosome 5q33 region in Latin American pedigrees.

We previously reported linkage of bipolar disorder to 5q33-q34 in families from two closely related population isolates, the Central Valley of Costa Rica (CVCR) and Antioquia, Colombia (CO). Here we present follow up results from fine-scale mapping in large CVCR and CO families segregating severe bipolar disorder, BP-I, and in 343 population trios/duos from CVCR and CO. Employing densely spaced SNPs to fine map the prior linkage peak region increases linkage evidence and clarifies the position of the putative BP-I locus. We performed two-point linkage analysis with 1134 SNPs in an approximately 9 Mb region between markers D5S410 and D5S422. Combining pedigrees from CVCR and CO yields a LOD score of 4.9 at SNP rs10035961. Two other SNPs (rs7721142 and rs1422795) within the same 94 kb region also displayed LOD scores greater than 4. This linkage peak coincides with our prior microsatellite results and suggests a narrowed BP-I susceptibility regions in these families. To investigate if the locus implicated in the familial form of BP-I also contributes to disease risk in the population, we followed up the family results with association analysis in duo and trio samples, obtaining signals within 2 Mb of the peak linkage signal in the pedigrees; rs12523547 and rs267015 (P = 0.00004 and 0.00016, respectively) in the CO sample and rs244960 in the CVCR sample and the combined sample, with P = 0.00032 and 0.00016, respectively. It remains unclear whether these association results reflect the same locus contributing to BP susceptibility within the extended pedigrees.