Humoral and cellular immune responses to SARS CoV-2 vaccination in People with Multiple Sclerosis and NMOSD patients receiving immunomodulatory treatments.

BACKGROUND: Vaccination against SARS CoV-2 results in excellent personal protection against a severe course of COVID19. In People with Multiple Sclerosis (PwMS) vaccination efficacy may be reduced by immunomodulatory medications. OBJECTIVE: To assess the vaccination induced cellular and humoral immune response in PwMS receiving disease modifying therapies. METHODS: In a monocentric observational study on PwMS and patients with Neuromyelitis optica we quantified the cellular and humoral immune responses to SARS CoV-2. RESULTS: PwMS receiving glatiramer acetate, Interferon-ß, Dimethylfumarate, Cladribine or Natalizumab had intact humoral and cellular immune responses following vaccination against SARS CoV-2. B-cell depleting therapies reduced B-cell responses but did not affect T cell responses. Sphingosin-1-Phospate (S1P) inhibitors strongly reduced humoral and cellular immune responses. There was a good agreement between the Interferon gamma release assay and the T-SPOT assay used to measure viral antigen induced T-cell responses. CONCLUSION: This study demonstrates that S1P inhibitors impair the cellular and humoral immune response in SARS CoV-2 vaccination, whereas patients receiving B-cell depleting therapies mount an intact cellular immune response. These data can support clinicians in counselling their PwMS and NMOSD patients during the COVID 19 pandemic.

TROPHY registry - status report.

INTRODUCTION: The TROPHY registry has been established to conduct an international multicenter prospective data collection on the surgical management of neonatal intraventricular hemorrhage (IVH)-related hydrocephalus to possibly contribute to future guidelines. The registry allows comparing the techniques established to treat hydrocephalus, such as external ventricular drainage (EVD), ventricular access device (VAD), ventricular subgaleal shunt (VSGS), and neuroendoscopic lavage (NEL). This first status report of the registry presents the results of the standard of care survey of participating centers assessed upon online registration. METHODS: On the standard of treatment forms, each center indicated the institutional protocol of interventions performed for neonatal post-hemorrhagic hydrocephalus (nPHH) for a time period of 2 years (Y1 and Y2) before starting the active participation in the registry. In addition, the amount of patients enrolled so far and allocated to a treatment approach are reported. RESULTS: According to the standard of treatment forms completed by 56 registered centers, fewer EVDs (Y1 55% Y2 46%) were used while more centers have implemented NEL (Y1 39%; Y2 52%) to treat nPHH. VAD (Y1 66%; Y2 66%) and VSGS (Y1 42%; Y2 41%) were used at a consistent rate during the 2 years. The majority of the centers used at least two different techniques to treat nPHH (43%), while 27% used only one technique, 21% used three, and 7% used even four different techniques. Patient data of 110 infants treated surgically between 9/2018 and 2/2021 (13% EVD, 15% VAD, 30% VSGS, and 43% NEL) were contributed by 29 centers. CONCLUSIONS: Our results emphasize the varying strategies used for the treatment of nPHH. The international TROPHY registry has entered into a phase of growing patient recruitment. Further evaluation will be performed and published according to the registry protocol.

Hydrocephalus shunt therapy: current titanium shunt valve implants obstructed by internal tissue proliferations identified as extracellular matrix membranes.

PURPOSE: Shunt valves, required for treatment of hydrocephalus, demand for high performance rates and lifelong excellent function. To overcome problems with traditional silicone materials, adjustable and gravity-adapted titanium valves were developed. Even modern shunt valve systems are still subject to occlusion. The aim of the present study was to investigate dysfunctional silicone and titanium valves for presence of cellular and proteinous materials inside the housings by means of histopathology. METHODS: A total of 19 explanted shunt valves from children between 2 and 182 months of age were investigated following dysfunction. After fixation in formalin and embedding in hard resin, slices were ground to a thickness of 5-30 µ. Besides standard histology, immunohistochemistry was performed using antibodies with markers for microglia, astrocytes, platelets, monocytes, and the proteins laminin, fibronectin, and collagen IV. RESULTS: Traces, layers, and plaques could be demonstrated in every investigated silicone or titanium valve with an implantation time of more than 6 days. Most of the tissue was found adjacent to silicone and titanium surfaces of the inner housing, the adjustment rotor, and ball-in-cone core. Markers for micro and astroglia stained positive in 40-60% of the specimen, mostly demonstrating a proteinous layer positive for laminin (80%), fibronectin (30%), and collagen IV (30%). CONCLUSIONS: Tissue reactions with formation of cellular and proteinous matrix components are common in obstructed silicone and titanium shunt valves. The tissue mimics astrocytic repair mechanisms genuine for basilar membrane matrix. The knowledge of these typical arachnoid patterns of colonization is a prerequisite for developing future shunt devices.

Individual invitation letters lead to significant increase in attendance for screening colonoscopies: Results of a pilot study in Northern Hesse, Germany.

BACKGROUND: Colorectal cancer (CRC) is the second most common cancer in Germany. Screening colonoscopies are considered an effective tool for early detection and prevention of CRC and are recommended in Germany for citizens over the age of 55. To increase the participation rate for screening colonoscopies, an invitation procedure was initiated in parts of Germany for patients between the ages of 55 and 75 who had never undergone a screening colonoscopy before. METHODS: We examined the number of participating patients before, during, and after the invitation procedure and compared the number of the participating patients who received a cover letter with the participating patients from the control group. Additionally, we classified the findings of the colonoscopies including CRC, advanced adenomas, and polyps. RESULTS: During the invitation period, the participation rate of the invitation group increased from 220 patients to 531 patients compared to 1256 to 1693 in the control group. The increase was significantly greater in patients with cover letters (+141% vs.+35%, p < 0.0001). Also, significantly more polyps and adenomas were found in patients from the invitation letter group (254 (+102%) vs. 679 (-9%), p < 0.0001). CONCLUSIONS: Our study clearly indicates that personal invitation letters are an effective measure to increase overall participation rates in screening colonoscopies.

Fission products detection in irradiated TRIGA fuel by means of gamma spectroscopy and MCNP calculation.

Aim of this work was the detection of fission products activity distribution along the axial dimension of irradiated fuel elements (FEs) at the TRIGA Mark II research reactor of the Technische Universität (TU) Wien. The activity distribution was measured by means of a customized fuel gamma scanning device, which includes a vertical lifting system to move the fuel rod along its vertical axis. For each investigated FE, a gamma spectrum measurement was performed along the vertical axis, with steps of 1 cm, in order to determine the axial distribution of the fission products. After the fuel elements underwent a relatively short cooling down period, different fission products were detected. The activity concentration was determined by calibrating the gamma detector with a standard calibration source of known activity and by MCNP6 simulations for the evaluation of self-absorption and geometric effects. Given the specific TRIGA fuel composition, a correction procedure is developed and used in this work for the measurement of the fission product Zr95. This measurement campaign is part of a more extended project aiming at the modelling of the TU Wien TRIGA reactor by means of different calculation codes (MCNP6, Serpent): the experimental results presented in this paper will be subsequently used for the benchmark of the models developed with the calculation codes.

Toward High-Throughput Computational Screening of Carbon Nanotube Solvents.

We use the corresponding distances method (CDM) to computationally assess the quality of 10 experimentally tested carbon nanotube (CNT) solvents. The CDM produces accurate and high-resolution potential of mean force curves from a single simulation per solvent. The method's very high efficiency allows us to investigate an unprecedented number of solvents in one study. The simulation results indicate that none of the tested molecules are solvents in the thermodynamic sense; instead, they are dispersants preventing reaggregation of already dispersed CNTs. We find that the dispersion free energy barrier correlates very well with the experimentally measured performance of the dispersants; i.e., the simulations place the solvents in the correct performance order. Our analysis of the structure-function relationship rationalizes this order.

Assessing the Quality of Solvents and Dispersants for Low-Dimensional Materials Using the Corresponding Distances Method.

We demonstrate that the corresponding distances method is an accurate, highly efficient, and simple method to assess the quality of solvents and dispersants for low-dimensional nanomaterials. It provides potential of mean force curves at very high resolution from a single simulation using atomistic models with common simulation software. Applying the corresponding distances method to a pair of (10,10) single-wall carbon nanotubes immersed in bromotrichloromethane, we find that bromotrichloromethane is not a solvent for carbon nanotubes. This assessment is in agreement with experimental results but contradicts predictions from Hansen solubility parameters. We argue that the reason for the false-positive prediction of solubility theory is that it does not capture the structural details of the adsorbed solvent layer, which governs the solvent-mediated forces between the tubes.

A scalable label-free approach to separate human pluripotent cells from differentiated derivatives.

The broad capacity of pluripotent human embryonic stem cells (hESC) to grow and differentiate demands the development of rapid, scalable, and label-free methods to separate living cell populations for clinical and industrial applications. Here, we identify differences in cell stiffness, expressed as cell elastic modulus (CEM), for hESC versus mesenchymal progenitors, osteoblast-like derivatives, and fibroblasts using atomic force microscopy and data processing algorithms to characterize the stiffness of cell populations. Undifferentiated hESC exhibited a range of CEMs whose median was nearly three-fold lower than those of differentiated cells, information we exploited to develop a label-free separation device based on the principles of tangential flow filtration. To test the device's utility, we segregated hESC mixed with fibroblasts and hESC-mesenchymal progenitors induced to undergo osteogenic differentiation. The device permitted a throughput of 10(6)-10(7) cells per min and up to 50% removal of specific cell types per single pass. The level of enrichment and depletion of soft, pluripotent hESC in the respective channels was found to rise with increasing stiffness of the differentiating cells, suggesting CEM can serve as a major discriminator. Our results demonstrate the principle of a scalable, label-free, solution for separation of heterogeneous cell populations deriving from human pluripotent stem cells.

[First data concerning the medical supply of patients with non-alcoholic fatty liver disease in Germany - a survey in university hospital centers of hepatology]. / Erste Daten zur Versorgungssituation von Patienten mit nicht alkoholischer Fettlebererkrankung (NAFLD) in Deutschland - Eine Umfrage an universitären hepatologischen Zentren.

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) currently is one oft the most common reasons for chronic liver injury in the western world. In the European and American population the prevalence is up to 30 %. The medical supply of German patients with NAFLD is variable and has not been analyzed to date. METHODS: We sent questionnaires to all university liver centers in Germany (11 questions) concerning the medical supply of patients with NAFLD. Questions included the rate of patients with fatty liver disease in the outpatient clinics, metabolic comorbidities and the kind of assignment. Besides that, individual clinical standards were documented. We compared longitudinal changes between 2008 and 2013. RESULTS: The return rate of questionnaires was 65 % (n = 20). Analysis showed that the portion of NAFLD patients in the university outpatient clinics had increased between 2008 and 2013 with the predominant part of patients being assigned from external practitioners and not from internal departments of the hospital. Only few patients were assigned by diabetologists or endocrinologists, but on the other hand most liver outpatient clinics investigated their NAFLD patients for metabolic disorders. Cooperation between liver outpatient clinics and other medical services was moderate and was rated average, joint conferences were held rarely. Follow-up visits of patients with NAFLD take place regularly in all centers, however based on different criterions. A consistent algorithm concerning risk assessment and invasive workup does not exist. CONCLUSION: The awareness concerning patients with NAFLD seems to have grown in recent years. Nevertheless, the medical supply of these patients is quite heterogenous and consistent standards do not exist. Therefore, a common guidline is urgently required.

Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder inherited as an autosomal recessive trait. MLD is caused by the deficiency of arylsulfatase A (ARSA), a lysosomal enzyme that catalyzes the first step in the degradation of sulfated glycolipids, which are essential components of the myelin sheet. Notably, between 7% and 15% of healthy individuals show in vitro deficiency of ARSA, a condition called ARSA pseudodeficiency (ARSA-PD). To date, 151 ARSA-MLD mutations have been reported in the gene encoding ARSA (ARSA), among which IVS2+1G>A and P426L occur at high frequencies in most of the studied populations. The aim of this work was to identify ARSA mutant alleles in a cohort of 27 unrelated Brazilian MLD patients. The most frequent ARSA-MLD mutation, IVS2+1G>A, and the ARSA-PD polymorphisms, N350S and 1524+95A>G, were detected using real-time PCR, while the remaining mutations were detected using direct sequencing of ARSA. In concordance with previous reports, IVS2+1G>A and P426L were the most common ARSA-MLD mutations in our cohort of MLD patients, found at frequencies of 0.05 and 0.08, respectively. Interestingly, two mutations previously reported as rare, 103_110del8 and 1190_1191insC, were found at higher frequencies in our cohort of MLD patients, 0.08 and 0.06, respectively. Additionally, 11 other rare ARSA-MLD mutations were found at lower frequencies in our cohort of MLD patients. To our knowledge, this is the first systematic genotypic characterization of MLD patients from Latin America. This work highlights the genetic heterogeneity of MLD, and supports genotype-phenotype associations, which become more important as specific treatments are being developed for this devastating disorder.

Immunogenicity and safety of a two-dose live attenuated varicella vaccine given to adults following autologous hematopoietic stem cell transplantation.

BACKGROUND: Immunogenicity and safety of varicella vaccine (Varilrix(™) [Oka-RIT]; GlaxoSmithKline Vaccines) in adults who had undergone autologous hematopoietic stem cell transplantation (HSCT) were assessed (September 2003 to September 2007; NCT00792623). METHODS: Two Oka-RIT doses were given at 4.5 and 6.5 months post transplantation. Humoral immune responses were assessed using an immunofluorescence assay (anti-varicella zoster virus [VZV] antibody; cutoff 1:4) after each vaccine dose. Solicited local (8 day) and general (43 day), unsolicited (until day 43) adverse events (AEs) after each vaccine dose and serious adverse events (SAEs) (until 17.5 months post dose 2) were recorded. RESULTS: Of 45 patients, 19 were included in the according to protocol cohort for immunogenicity; 15 patients had pre- and post-vaccination serum samples positive for anti-VZV antibodies. Vaccine responses (anti-VZV antibody titer ≥1:4 in seronegative patients, and ≥4-fold increase in anti-VZV antibody titer in seropositive patients) were elicited by only 2 patients 2 months post dose 1, and by a single patient 1.5 months post dose 2. Although no major safety signals were detected, any and Grade 3 solicited AEs that were causally related to vaccination were reported by 44.8% and 10.3% patients, respectively. During the 43-day follow-up period, 3 patients developed varicella-like rash (1 vaccine-type VZV). Beyond 43 days, herpes zoster was reported in 2 patients and wild-type varicella infection in 2 patients (1 was breakthrough infection). Four non-fatal SAEs were reported by patients and considered causally unrelated to vaccination. CONCLUSION: Oka-RIT was poorly immunogenic but safe when given to adults up to 6 months post autologous HSCT, and alternative strategies are required to prevent VZV-associated complications in these populations.

Immunogenicity and Safety of the AS04-adjuvanted Human Papillomavirus-16/18 Cervical Cancer Vaccine in Malaysian Women Aged 18-35 years: A Randomized Controlled Trial.

INTRODUCTION: Cervical cancer is the third most common cancer in women worldwide. The HPV-16/18 AS04- adjuvanted vaccine (Cervarix©) has previously been shown to be highly immunogenic with a clinically acceptable safety profile. This phase IIIb, double-blind, randomized (1:1) and placebo controlled trial (NCT00345878) was designed to evaluate the vaccine immunogenicity against HPV-16 and HPV-18 as well as its safety and reactogenicity in Malaysian women. METHODS: Healthy women aged 18-35 years received intramuscularly three doses of either the vaccine (HPV group) or aluminium hydroxide (ALU group) at 0, 1, and 6 months. Antibody titers were measured by an enzyme-linked immunosorbent assay (ELISA). RESULTS: A total of 271 eligible subjects were enrolled and 266 subjects completed the study. Initially seronegative subjects in the HPV group showed 100% seroconversion one month post-dose-3 for anti HPV-16 and anti-HPV-18 antibodies with geometric mean titers of 11107.5 (95% CI: 9727.3-12683.4) EL.U/mL and 4273.5 (95% CI: 3771.8-4841.9) EL.U/mL, respectively. Over 96% of subjects in both groups received all three vaccine doses. Solicited local (pain) and general symptoms (myalgia, fatigue, arthralgia and headache) were commonly reported in both HPV and ALU groups. Eight serious adverse events were reported throughout the study (five in the HPV group; three in the ALU group), all considered by investigators to be unrelated to vaccination. CONCLUSION: The HPV-16/18 AS04-adjuvanted vaccine was immunogenic and generally well tolerated in Malaysian women aged 18-35 years.

MGMT promoter methylation status and prognosis of patients with primary or recurrent glioblastoma treated with carmustine wafers.

The prognostic role of O(6)-methylguanine-DNA methyltransferase (MGMT) promoter methylation in glioblastoma patients treated with carmustine (BCNU) wafer implantation is unclear. Here, we report on a retrospective study of 47 patients with either newly diagnosed (30 patients) or recurrent (17 patients) glioblastoma (WHO grade IV) treated with BCNU (bis-chloroethylnitrosourea) wafers. Thirteen of the newly diagnosed patients received local BCNU and irradiation only (first-line BCNU), while 17 patients additionally received concomitant and adjuvant temozolomide (TMZ) radiochemotherapy (first-line BCNU + TMZ). Of the 17 patients treated for recurrent glioblastoma (second-line BCNU), 16 had received radiotherapy with concomitant and adjuvant TMZ as an initial treatment. Median overall survival (OS) did not significantly differ between 19 patients with MGMT promoter methylated tumors when compared to 28 patients with unmethylated tumors (18.9 vs 15.0 months; p = 0.1054). In the first-line BCNU + TMZ group, MGMT promoter methylation was associated with longer OS (21.0 vs 11.1 months, p = 0.0127), while no significant survival differences were detected in the other two subgroups. Progression-free survival did not significantly differ between patients with and without MGMT promoter methylated tumors in the entire patient cohort or any of the three subgroups. The first-line BCNU + TMZ group showed no significant difference in OS when compared to the first-line BCNU group (18.9 vs 14.7 months), but tended to have more therapy-related adverse effects (53% vs 24%, p = 0.105). In summary, MGMT promoter methylation showed a non-significant trend toward longer survival in our patient cohort. The combination of TMZ radiochemotherapy with local delivery of BCNU did not provide a significant survival benefit compared to local BCNU alone, but was associated with a higher rate of adverse effects. Owing to the small number of patients investigated, however, these findings would need to be corroborated in larger patient cohorts.

[Integrated management of patients with chronic inflammatory bowel disease in the Rhine-Main Region: results of the first integrated health-care project IBD in Germany]. / Integrierte Versorgung von Patienten mit chronisch-entzündlichen Darmerkrankungen im Rhein-Main-Gebiet: Ergebnisse der ersten integrierten Versorgung CED in Deutschland.

INTRODUCTION: In our previous studies investigating the drug therapy in patients suffering from inflammatory bowel disease (IBD) in the Rhein-Main region, Germany, we detected serious discrepancies between treatment reality and treatment guidelines. Consecutively, patient outcome in this cohort was compromised. Following this pilot project a network between primary deliverers of care for IBD patients and one large health-care insurance company [BKK Taunus (Gesundheit), the second largest insurance company in Hessen, Germany] was established. PATIENTS AND METHODS: An analysis of treatment and socioeconomic data from 220 IBD patients (Crohn's disease - CD = 96, ulcerative colitis - UC = 124) entering the integrative health-care programme between 1.1.-30.9.2009 was performed. RESULTS: Remission rates for CD and UC in the integrated health-care programme could be improved from 60 - 73 % (CD) and from 61 - 79 % (UC). Guideline-conform treatment was observed in 81 % of patients with CD and 85 % with UC, respectively. Although medication costs increased, total costs could be cut by 162 304.- €, as secondary costs for hospitalisation and days off work could be reduced. CONCLUSION: The study shows that networking of deliverers of care for IBD patients with health insurances provides an excellent possibility to optimise medical treatment and can cut down costs significantly.

Glioma infiltration of the corpus callosum: early signs detected by DTI.

The most frequent primary brain tumors, anaplastic astrocytomas (AA) and glioblastomas (GBM): tend to invasion of the surrounding brain. Histopathological studies found malignant cells in macroscopically unsuspicious brain parenchyma remote from the primary tumor, even affecting the contralateral hemisphere. In early stages, diffuse interneural infiltration with changes of the apparent diffusion coefficient (ADC) and fractional anisotropy (FA) is suspected. The purpose of this study was to investigate the value of DTI as a possible instrument of depicting evidence of tumor invasion into the corpus callosum (CC). Preoperatively, 31 patients with high-grade brain tumors (8 AA and 23 GBM) were examined by MRI at 3 T, applying a high-resolution diffusion tensor imaging (DTI) sequence. ADC- and FA-values were analyzed in the tumor-associated area of the CC as identified by fiber tracking, and were compared to matched healthy controls. In (MR-)morphologically normal appearing CC the ADC values were elevated in the tumor patients (n = 22; 0.978 × 10(-3) mm²/s) compared to matched controls (0.917 × 10(-3) mm²/s, p < 0.05), and the corresponding relative FA was reduced (rFA: 88 %, p < 0.01). The effect was pronounced in case of affection of the CC visible on MRI (n = 9; 0.978 × 10(-3) mm²/s, p < 0.05; rFA: 72 %, p < 0.01). Changes in diffusivity and anisotropy in the CC can be interpreted as an indicator of tumor spread into the contralateral hemisphere not visible on conventional MRI.

Toxicity and survival in primary glioblastoma patients treated with concomitant plus adjuvant temozolomide versus adjuvant temozolomide: results of a single-institution, retrospective, matched-pair analysis.

BACKGROUND: To compare survival and hematological toxicity rates between two postoperative therapy regimens in patients with primary glioblastoma (GBM), namely temozolomide (TMZ) concomitant to radiation, followed by adjuvant TMZ, versus adjuvant TMZ after radiation only. PATIENTS AND METHODS: A total of 191 patients with primary GBM were postoperatively treated with either radiation and concomitant TMZ, followed by adjuvant TMZ (Stupp protocol) (n = 154), or radiation followed by adjuvant TMZ (n = 37). The incidence of hematological adverse effects (AE) was recorded for all patients. From both treatment groups, 26 patients were matched according to age, Karnofsky performance scale (KPS) score, and O6-methylguanine-DNA-methyltransferase (MGMT) promoter methylation. RESULTS: Hematological AEs were mild in both unmatched groups, but were significantly more frequent in the concomitant plus adjuvant TMZ group (p < 0.001). Matched-pair analysis confirmed significantly more frequent hematological AEs in the concomitant and adjuvant group compared to the sequential (adjuvant) TMZ group (p = 0,012). Patients treated with concomitant plus adjuvant TMZ showed significantly longer progression-free survival (PFS) (10.6 versus 6.6 months; p = 0.014), but no prolonged overall survival (OS) (16.9 vs. 15.6 months; p = 0.717) compared to patients who received the sequential treatment regimen. CONCLUSION: In this retrospective study, the OS in patients with primary GBM treated with sequential TMZ following radiation appeared to be similar to that in patients treated with concomitant plus adjuvant TMZ. Given the significantly higher risk of hematological AE for concomitant treatment, the role of concomitant plus adjuvant TMZ use compared to sequential administration of TMZ, especially for patients with MGMT-unmethylated tumors, should be further evaluated.

[Silent cardiotocogram during general anesthesia. Indication for emergency Cesarean section?]. / Silentes Kardiotokogramm während Allgemeinanästhesie. Indikation zur Notsectio?

This case report of a silent cardiotocogram (CTG) registration during general anesthesia in a 33-week-pregnant patient undergoing non-obstetric surgery demonstrates the possibility of misinterpretation whereby typical CTG patterns of fetal reactions to anesthetics can be misinterpreted as fetal hypoxia or even asphyxia.

Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women

Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα genotypes was: ERα-397 PvuII C/T: 32.3% TT, 47.5% TC, and 20.2% CC; ERα-351 XbaI A/G: 46.3% AA, 41.7% AG and 12.0% GG. ERα haplotypes were 53.5% PX, 14.3% Px, 0.3% pX, and 32.0% px. These were significantly different from most previously published reports worldwide (P < 0.05). Overall, the PGR PROGINS genotypes A2A2 and A1A2 were associated with fatty and moderately fatty breast tissue. The same genotypes were also associated with a high BMI in postmenopausal women. In addition, the ERα-351 XbaI GG genotype was associated with menarche ≥12 years (P = 0.02). ERα and PGR polymorphisms have a phenotypic effect and may play an important role in BC risk determination. Finally, if confirmed in BC patients, these associations could have important implications for mammographic screening and strategies and may be helpful to identify women at higher risk for the disease.