A new paradigm in the management of scalp pruritus: findings from the SCALP-PR trial.

PURPOSE: The "Impact of scalp pruritus in dermatological consultations in Spain: The SCALP-PR trial" was initiated to address the common yet often insufficiently examined issue of scalp pruritus in dermatology. This condition leads to an uncontrollable urge to scratch, affecting the patients' quality of life and potentially causing scalp damage. This study aimed to explore the prevalence, patient profile, underlying conditios, and therapeutic approaches for scalp pruritus in Spain, and to assess the safety and efficacy profile, as well as the tolerability of a non-pharmacologic treatment. METHODS: From 2021 through 2022, 75 dermatologists enrolled a total of 359 patients in a study on scalp pruritus, approved by the Bellvitge University Hospital Research Ethics Committee, Barcelona, Spain. This evidence-based research combined a meta-analysis with observational study techniques focused on real-world evidence to examine the therapeutic impact on quality of life (QoL). Utilizing the Dermatology Life Quality Index (DLQI) for QoL assessments, the study evaluated the effectiveness of the topical product over 15 days. Data collection was conducted via an eCRF and analyzed with statistical methods to provide reliable insights into the management of scalp pruritus. RESULTS: The prevalence of scalp pruritus in Spain was found to be 6.9%, predominantly among women with a mean age of 52.5 years. The leading causes identified were seborrheic dermatitis and pruritus of undetermined etiology or sensitive scalp. Stress was noted as a key factor, with corticosteroids and hygienic measures being common therapies. The topical product demonstrated significant reductions in pruritus and scratching in more than 90% of patients after 15 days. Improvements were also seen in dermatological quality of life, with 87.1% of patients showing enhancements in DLQI scores. The product was well-received thanksto its cosmetic properties, with high ratings in texture, ease of application, and fragrance. CONCLUSION: The topical product studied is a safe, effective, and cosmetically appealing treatment, improving scalp pruritus in various etiologies for most patients. The results highlight the need for patient-center treatments in dermatology, providing important insights for clinical practice and future research.

Association of positive psychological variables with disease activity, functional disability and erythrocyte sedimentation rate in patients with rheumatoid arthritis: a preliminary study.

Rheumatoid arthritis (RA) is a chronic autoimmune disease which has shown positive correlations between negative psychological variables and disease activity in transversal studies and in the follow-up. However, the association of positive psychological variables with disease parameters including disease activity (DAS-28), functional disability (HAQ) and erythrocyte sedimentation rate (ESR) has not been investigated. Patients with RA attending the external consultation of a third level hospital were invited to participate and fill in a questionnaire with personal, disease and psychological variables; body mass index was also obtained as well as ESR. A total of 49 patients were included. The three dependent variables correlated among them, with the highest correlation for DAS-28 and HAQ (r=0.645, p<0.01), followed by somatization and HAQ (r=0.614, p<0.01) or DAS-28 (r=0.537, P<0.01). In addition, HAQ showed negative correlations with environmental mastery (r=- 0.366, p<0.01), personal growth (r=-0.292, p<0.05) and monthly extra money (r=-0.328, p<0.05), and borderline negative correlations with emotion perception (r=-0.279, p=0.053) and self-acceptance (r=-0.250, p=0.08). ESR showed a significant negative correlation with emotion perception (r=-0.475, p<0.01). In conclusion, we observed important correlations of positive psychological variables with disease activity, functional disability and ESR that could be addressed in order to prevent or treat these disease features.

Sensitive Scalp: Diagnosis and Practical Management. / Cuero cabelludo sensible: diagnóstico y manejo práctico.

Sensitive scalp is sensitive skin located on the scalp. Sensitivity is considered primary in the absence of an associated scalp disorder and secondary when caused by conditions such as psoriasis, seborrheic dermatitis, and atopic dermatitis. The clinical manifestations of primary sensitive scalp are subjective. Common presenting symptoms are burning, itching, trichodynia, and dysesthesia, often coinciding with hair loss. Clinically, the skin appears normal or red. An objective diagnosis based on laboratory or histologic findings is not possible. Triggers may be endogenous (e.g., stress and emotional or psychopathological disturbances) or exogeneous (e.g., topical products and cosmetics). Treatment must be individualized. Options include pimecrolimus, hydration with hyaluronic acid, and mesotherapy with plasma rich in growth factors.

Evaluation of a psychoeducational intervention including emotional intelligence to increase treatment adherence in rheumatoid arthritis (A pilot study).

Our objective was to perform two studies: a cross-sectional study in order to identify the main psychological variables associated to treatment adherence in rheumatoid arthritis and an intervention based on psychoeducation to assess its impact on the variables identified in the first study. We measured treatment adherence, self-efficacy, beliefs about medication, emotional intelligence and disability along with personal and disease variables in the cross-sectional study and the same variables were measured in the intervention before and after the program and 3 months later in 2 groups (an experimental group and an active control group). In the cross-sectional study (N=33) we found that the variables most associated with treatment adherence were emotional clarity (r=0.352, p<0.05) and emotional repair (r=0.363, p<0.05). In the intervention, we divided the patients into 2 groups: the control group (N=7) and the intervention group (N=10). At the end of the study and at follow-up, we found a significant increase in adherence and self-efficacy in the intervention group, when compared with the control group. Emotional clarity was increased only in the post-test, and at follow up a decrease in beliefs of concern about medication was found. Psychoeducational programs based on information about the disease and its treatment together with emotional management are effective in increasing treatment adherence in the long term.

Body dysmorphic disorder in patients with acne: a multicentre study.

BACKGROUND AND OBJECTIVE: Body dysmorphic disorder (BDD) is a mental disorder that is difficult to diagnose, causes a lot of suffering and is more prevalent in dermatology patients than in the general population. Our objective was to screen for possible cases of BDD in patients with acne and to determine the prevalence according to DSM-IV and DSM-5 criteria, as well as to analyse the relationship between dermatological and sociodemographic variables. METHODS: A total of 245 patients diagnosed with acne in 11 dermatological centres in Spain were included in the study by members of the Aragon Psychodermatology Research Group and Spanish Research Group of Psychiatric Dermatology. We used the Body Dysmorphic Disorder Questionnaire (BDDQ) as a screening tool. RESULTS: In our sample, we obtained a prevalence for BDD of 10.6% (95% CI: 7.6-13.6%). The prevalence was the same with DSM-IV or DSM-5 criteria. Possible cases of BDD were predominantly women (P = 0.021), and 56% had non-inflammatory lesions vs. 30% of negative patients (P = 0.002). Positive patients as possible cases of BDD spent more than two hours on average a day worrying about their appearance. Most people only worried about one part of their body (86%), and in 95% of the cases, the part of their body that worried them was the face. The three most frequent compulsive behaviours in patients who screened positive for BDD were mirror checking (90.7%), camouflaging (79.1%) and using make-up (72.1%). CONCLUSIONS: As a consequence of the high prevalence of possible cases of BDD in patients with acne observed in our study, there is a need for dermatologists to screen for BDD so that they can be referred to a mental health unit to confirm the diagnosis and be offered treatment to reduce the progression of psychosocial deterioration and the development of comorbid disorders.

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

PURPOSE: There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. METHODS: Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX). A case-control association study was performed to establish its prevalence in Spanish population, in a series of 1477 BRCAX families and 589 controls further screened, and NGS panels were used for ATM mutational screening in a cohort of 392 HBOC Spanish BRCAX families and 350 patients affected with diseases not related to breast cancer. RESULTS: Although the interrogated mutation was not prevalent in case-control association study, a comprehensive mutational analysis of the ATM gene revealed 1.78% prevalence of mutations in the ATM gene in HBOC and 1.94% in breast cancer-only BRCAX families in Spanish population, where data about ATM mutations were very limited. CONCLUSION: ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility.

Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.

Mutations in the SCN1A gene can result in syndromes associated with epilepsy, including the Dravet syndrome (DS). However, the prevalence of such mutations in these diseases varies widely between different studies, and has not been examined in Mexican patients with epilepsy. Therefore, the objective of this study was to determine the frequency of SCN1A mutations (in the exon 26) in a cohort of Mexican patients with DS and refractory epilepsy (RE). We recruited 24 Mexican patients (14 males and 10 females), of which 15 were diagnosed with RE and 9 were diagnosed with DS. The SCN1A gene was sequenced to uncover mutations in exon 26. We detected 2 novel genotypes in 2 DS patients. One was a synonymous variant, c.5418 G > A (E1806E), and the other was a missense variant, c. 5324 T > C (L1775P). The missense mutation was predicted to be damaging with a score of 100% by the PolyPhen-2 program. The frequency of pathogenic variants was 4.17% in all the patients and 11.1% in DS patients, which, together with other publications, emphasize that specific and more severe phenotypes are associated with SCN1A mutations.

Molecular Characterization of the Gas-Particle Interface of Soot Sampled from a Diesel Engine Using a Titration Method.

Surface functional groups of two different types of combustion aerosols, a conventional diesel (EN 590) and a hydrotreated vegetable oil (HVO) soot, have been investigated using heterogeneous chemistry (i.e., gas-particle surface reactions). A commercial sample of amorphous carbon (Printex XE2-B) was analyzed as a reference substrate. A Knudsen flow reactor was used to carry out the experiments under molecular flow conditions. The selected gases for the titration experiments were: N(CH3)3 for the identification of acidic sites, NH2OH for the presence of carbonyl groups, CF3COOH and HCl for basic sites of different strength, and O3 and NO2 for reducing groups. Reactivity with N(CH3)3 indicates a lower density of acidic functionalities for Printex XE2-B in relation to diesel and HVO soot. Results for NH2OH experiments indicates that commercial amorphous carbon exhibits a lower abundance of available carbonyl groups at the interface compared to the results from diesel and HVO soot, the latter being the one with the largest abundance of carbonyl functions. Reactions with acids indicate the presence of weak basic oxides on the particle surface that preferentially interact with the strong acid CF3COOH. Finally, reactions with O3 and NO2 reveal that diesel and especially HVO have a significantly higher reactivity with both oxidizers compared to that of Printex XE2-B because they have more reducing sites by roughly a factor of 10 and 30, respectively. The kinetics of titration reactions have also been investigated.

Bovine dopamine receptors DRD1, DRD4, and DRD5: genetic polymorphisms and diversities among ten cattle breeds.

The aim of this study was to analyze the allelic frequency distribution and segregation among breeds and/or between different cattle genetic groups of four novel single nucleotide polymorphisms of the bovine DRD1 and DRD5 genes and one reported SNP from the DRD4 gene. One hundred and nine-animals from ten different cattle breeds were genotyped and allelic frequencies for each locus were estimated. There were significant differences in the allelic frequencies (P < 0.05) among breeds for the DRD1 and DRD5 markers. The allelic frequencies for markers DRD1-825A>G and DRD5-378C>T were also significantly different between groups differing in genetic background. Because differences in temperament have been reported between Bos taurus taurus and B. taurus indicus breeds and their crosses, further studies are needed to investigate if any association exists between described markers and cattle behavior traits.

eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease.

Fabry disease (FD) is an inherited X-linked lysosomal disease that causes renal failure in a high percentage of affected individuals. The eNOS gene encodes for endothelial nitric oxide synthase, which plays an important role in glomerular hemodynamics. This gene has two main polymorphisms (Glu298Asp and 4b/a) that have been studied in the context of many different diseases, including those involving cardiovascular and renal alterations. Considering the lack of information regarding eNOS variants and FD, we investigated whether there were associations between eNOS genetic variants and renal function parameters in Mexican patients with FD and renal impairment. In total, 15 FD patients with renal alterations were included in the present study, and associations between eNOS polymorphisms and renal function parameters (urea, creatinine, and GFR) were evaluated. The Asp298 and 4a alleles of the eNOS gene were found to be significantly associated with increased levels of urea and creatinine, and a decreased glomerular filtration rate in FD patients, and this association behaved in a co-dominant fashion. Our results coincide with previous reports showing an association between these polymorphisms and kidney disease, and along with other studies regarding their role in the nitric oxide pathway, suggest that these variants affect the severity of nephropathy in patients with FD.

SEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS.

The appearance of untreated severe hydrocephalus with long-term survival is infrequent; here we report a case with these characteristics, mild neurological alterations and kidney and skeletal anomalies. A female patient showed severe hydrocephalus (initially mistaken with hydranencephaly) at 4 years old and left kidney ectopia (initially mistaken with renal agenesis); however, she was derived to the neurology service until she was 12 years old, when she began to present migraine and seizures. At 13 years old the patient was diagnosed with arrested hydrocephalus secondary to aqueduct stenosis, and the seizures worsen thereafter from atonic seizures to complex partial seizures (at 14 years old), presenting generalized seizures at 15 years old. At 17 years old, the seizures were more frequent despite the anticonvulsant treatment and also presented automations, she was also diagnosed with genu recurvatinn and scoliosis. The seizures finally diminished and partially controlled at 19 years old. Despite a cerebral mantle < 2.0 cm at the computer tomography, the patient always presented a satisfactory intellectual development. In this case, the relatively good and long evolution of the severe hydrocephalus is probably related with the late-onset of the disease that permitted a better development of the brain; however, the worsening of the seizures after the hydrocephalus arrested, suggests that arrest is not necessarily associated with a compensation and better evolution of the disease, at least at the beginning of the process. The presence of kidney ectopia and skeletal alterations did not associate with a known genetic disease, however a possible inheritance mechanism is not discarded.

Pure 9p trisomy derived from a terminal balanced unreciprocal translocation.

The 9p trisomy is a relatively frequent disorder, while pure 9p trisomies are less frequent and usually derived from 9;22 translocations, duplications or 9p extra chromosomes. Here we report a patient with pure trisomy 9p derived from a terminal balanced unreciprocal translocation. The patient derived to the genetic service by psychomotor delay, presented at 2 years and 11 months: short stature, open anterior fontanelle, dysplastic ears, facial dysmorphisms, long and broad first toes with hypoplastic nails, central nervous system and skeletal alterations. The patient karyotype was: 46,XY,der(10)t(9;10) (p13.1;qter)mat while the mother karyotype was: 46,XX,t(9;10)(p13.1;qter). The presence of the subtelomeric region of 10q showed by FISH as well as the duplication of 9p subtelomere was further confirmed with multiplex ligation dependent probe amplification (MLPA) for the subtelomeric region of all chromosomes. The mechanism of formation seems to be due to a telomere break in 10q leading to loss of telomeric functions, permitting the 9p fusion; this has been supported with molecular probes showing telomere shortening in interstitial telomeric repeats, which are unable to prevent chromosome fusion. This is one of the few cases reported with terminal translocations (not jumping) preserving the subtelomeric region and highlights the importance of subtelomeric probes in terminal arrangements, and the utility of molecular probes, such as MLPA in defining this kind of abnormalities. In the clinical context, the patient presented a high proportion of 9p trisomy features which is expected considering the large 9p segment involved and the presence of the critical region 9p22.

Hair cosmetics: dyes.

Hair plays a significant role in body image, and its appearance can be changed relatively easily without resort to surgical procedures. Cosmetics and techniques have therefore been used to change hair appearance since time immemorial. The cosmetics industry has developed efficient products that can be used on healthy hair or act on concomitant diseases of the hair and scalp. Dyes embellish the hair by bleaching or coloring it briefly, for temporary periods of longer duration, or permanently, depending on the composition of a dye (oxidative or nonoxidative) and its degree of penetration of the hair shaft. The dermatologist's knowledge of dyes, their use, and their possible side effects (contact eczema, cancer, increased porosity, brittleness) can extend to an understanding of cosmetic resources that also treat hair and scalp conditions.

Pulmonary function in ankylosing spondylitis: association with clinical variables.

To evaluate the association between pulmonary function and clinical variables in ankylosing spondylitis (AS) and to compare the pulmonary function of patients with AS with that of healthy controls, 61 AS patients and 74 healthy controls were included. In AS, we assessed clinical disease indices (BASDAI, BASFI, BASG), morning stiffness, number of hypersensitive entheses, metrology measures, 6-min walking test, acute phase reactants, radiological presence of "bamboo spine," and severity of radiological involvement in sacroiliac and vertebral joints. AS and healthy controls had similar age and gender. All the parameters of pulmonary function were significantly diminished in AS than in healthy controls (p < 0.001), with a higher proportion of restrictive pattern (57.4 vs. 5.4 %). In AS, pulmonary function correlated negatively with BASDAI, BASFI, BASG, morning stiffness, number of hypersensitive entheses, occiput-wall distance, and ESR, and positively with 6-min walking test. There was no association between pulmonary function with radiological stage of vertebral joints and sacroiliac joints, "bamboo spine," disease duration, or chest expansion. A higher frequency of AS patients had a decreased pulmonary function and results of the 6-min walking test. These abnormalities in AS were more related with disease activity than with mobility limitation.

Ethics in dermatology: toward a new paradigm.

Medical ethics have evolved over time, and ethical responsibilities have often been shared by priests, the governing classes, and physicians. The emergence of scientific medicine led to the separation of functions, yet physicians have nonetheless continued to enjoy an extraordinary degree of moral authority and great social privilege. From this starting point, professional medical ethics developed as a specific moral system based on special rights and duties (paternalism and medical confidentiality). Various historical events brought this longstanding situation to a point of crisis toward the middle of the 20th century, and for several decades since, medical ethics have been based on freedom of choice for the patient with regard to decisions about his or her own body and health. Recent developments have created a new, still poorly defined model that takes into consideration such matters as euthanasia, abortion, provision of information on the benefits and harm of treatments, the sharing of therapeutic decision-making with the patient and/or family members, the choice of public or private medical providers, therapeutic guidelines, and the extension of the scope of practice to include preventive measures and cosmetic procedures. What is needed now is a new ethical system for plural societies that harbor different religions, beliefs and lifestyles, but that is also rational, universal and subject to ongoing revision-a system always striving for scientific, technical and moral excellence. Such an ethical system would have to be taught in medical schools, as it would need to bear fruit beyond mere good intentions.

Electrostrictive and piezoelectrical properties of chitosan-poly(3-hydroxybutyrate) blend films.

Herein, we report the high apparent piezoelectric coefficient for chitosan-poly(3-hydroxybutyrate) (CS-PHB) blend films. The structure of chitosan-poly(3-hydroxybutyrate) (CS-PHB) blend films, exploiting characteristics such as dielectric, polarization, apparent piezoelectric properties, and their dependencies on the composition, were investigated. Based on the results of XRD, SEM, FTIR, PFM, and dielectric spectroscopy measurements, the structure of CS-PHB blend films has been proposed, which consists of spheric-like inclusion formed by precipitating isotactic-PHB interface layer, which consists of syndiotactic-PHB hydrogen bonding with CS, and CS matrix. The synergistic effects of piezoelectricity and electrostriction help explain the high value of the apparent piezoelectric coefficient (d33) obtained in the blend film with 13 wt% of PHB (d33 ≈ 200 pC/N). The investigated CS-PHB blend films are a good candidate for tissue engineering applications.

Faciocardiorenal syndrome: a wide clinical spectrum?

Faciocardiorenal syndrome (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, unusual facial appearance, renal defects and mental retardation. We report a 7 months male patient, with the diagnosis of endocardial fibroelastosis, an abnormal facial appearance (arched eyebrows, broad nasal root, long philtrum and microretrognathia) and psychomotor delay. Associated anomalies were: plagiocephaly, broad halluces, nail hypoplasia, cryptorchidism, diastasis recti, and adducted thumbs. Focal seizures in the mouth were also observed. The radiographs revealed advanced bone age and metaphyseal widening of femur and tibia. FCRS has an unknown etiology with only three reported cases so far (since 1977). We report a patient with the main features of FCRS but without the renal component, suggesting that this entity can present a wide clinical spectrum. Based on these findings and on the few previously reported cases with a highly variable phenotype when compared with the original report, we suggest that FCRS should be further clinical delineated according to the following leading anomalies: endocardial fibroelastosis, unusual facial appearance and mental retardation, in order to find more cases that allow a wider clinical description and the identification of the genetic defect(s).

Wide clinical spectrum in Zimmermann-Laband syndrome.

Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.

[Sensitive skin: a complex syndrome]. / La piel sensible: un síndrome complejo.

Epidemiologic studies indicate that ever larger numbers of people report having sensitive skin, for which a European prevalence of 50% is estimated. Sensitive skin is characterized by hyperreactivity, with manifestations varying in relation to many factors. The pathogenesis of this disorder is poorly understood, although studies point to a biophysical mechanism. Objective diagnosis of sensitive skin is difficult, as information comes mainly from the patient's report of symptoms in the absence of effective, strongly predictive tests because of great interindividual variability in skin sensitivity. Substances that trigger a reaction in hypersensitive skin also vary greatly. The impact of this syndrome on quality of life is considerable and patients often present psychiatric symptoms; therefore, dermatologists should explore this possibility when taking a patient's history. Patient cooperation and physician persistence are both essential for treating sensitive skin.