[Effects of inspiratory muscle training on respiratory function and balance in stroke survivors: a randomized controlled trial]. / Efectos del entrenamiento muscular inspiratorio sobre la función respiratoria y el equilibrio en supervivientes de ictus: un ensayo clínico controlado aleatorizado.

INTRODUCTION: After a stroke, patients with hemiparesis and / or hemiplegia will present a notable asymmetry of the trunk and pelvis, and decreased postural stability and balance, affecting, consequently, respiratory function. OBJECTIVE: The objective of this study is to analyze the effects of inspiratory muscle training (IMT) on lung function, inspiratory muscle strength, postural and trunk control and balance in stroke survivors in the subacute phase. MATERIALS AND METHODS: 16 survivors of stroke in the subacute phase participated in RCT (experimental = 8; placebo = 8). The experimental group received IMT program, 5 days a week, once a day, for 8 weeks, with a progressive intensity from 15% to 60% of the PImax. The placebo group performed the same program, but with a fixed load of 7cmH20. Inspiratory muscle strength (PImax), lung function (FVC, FEV1, PEF, VMV), trunk control (TCT), and postural control and balance (PASS and Berg Scale) were evaluated. RESULTS: Experimental and placebo groups showed significant increases in PImax, with a difference between groups. There was a moderate and negative correlation between the initial PImax value and the percentage change (?PImax) (r = -0.572; p = 0.021). Significant increases in VMV (l/m) were observed in the experimental group, and increases in PASS in both groups, but without significant differences between groups. CONCLUSIONS: Inspiratory muscle training, although low intensity, is effective in improving inspiratory muscle strength in stroke survivors. However, the effects on postural control and balance remain uncertain.

TITLE: Efectos del entrenamiento muscular inspiratorio sobre la función respiratoria y el equilibrio en supervivientes de ictus: un ensayo clínico controlado aleatorizado.Introducción. Tras un ictus, los pacientes con hemiparesia y/o hemiplejía van a presentar una asimetría notable del tronco y la pelvis, y una disminución de la estabilidad postural y el equilibrio, lo que afecta, como consecuencia, a la función respiratoria. Objetivo. Analizar los efectos del entrenamiento muscular inspiratorio (EMI) sobre la función pulmonar, la fuerza muscular inspiratoria, el control postural y del tronco y el equilibrio en supervivientes de ictus. Materiales y métodos. Dieciséis pacientes supervivientes de ictus en fase subaguda participaron en un ensayo clínico controlado aleatorizado (experimental = 8; placebo = 8). El grupo experimental recibió un programa de EMI, cinco días a la semana, una vez al día, durante ocho semanas, con una intensidad progresiva del 15 al 60% de la PImáx. El grupo placebo realizó el mismo programa, pero con una carga fija de 7 cmH2O. Se evaluaron la fuerza muscular inspiratoria ­presión inspiratoria máxima (PImáx)­, la función pulmonar (capacidad vital forzada, volumen espirado en el primer segundo, flujo espiratorio máximo y ventilación voluntaria máxima), el control del tronco (test de control del tronco), y el control postural y el equilibrio ­Postural Scale for Stroke Patients (PASS) y escala de Berg­. Resultados. Los grupos experimental y placebo presentaron incrementos significativos en la PImáx, con diferencia entre grupos. Existió una correlación negativa y moderada entre el valor de la PImáx inicial y el porcentaje de cambio (?PImáx) (r = ­0,572; p = 0,021). Se observaron incrementos significativos en la ventilación voluntaria máxima (L/m) en el grupo experimental, e incrementos en la PASS en ambos grupos, pero sin diferencias significativas entre grupos. Conclusiones. El entrenamiento muscular inspiratorio, aunque de baja intensidad, es efectivo para mejorar la fuerza muscular inspiratoria en pacientes supervivientes de ictus. Sin embargo, los efectos sobre el control postural y el equilibrio permanecen inciertos.

Patients' preimplantation genetic testing decision-making experience: an opinion on related psychological frameworks.

The process of deciding whether to pursue preimplantation genetic testing (PGT) of an embryo is highly stressful for individuals and couples and has adverse emotional consequences (e.g. distress and uncertainty). PGT influences patients' lives in both positive and negative ways and is experienced at an individual level, as a dyadic unit, as a family member and as part of the society. Here, we argue that providing a conceptual framework with which to understand the `experience of decision making' about PGT for monogenic disease (PGT-M) testing specifically, as well as the factors contributing to `decisional distress' and `uncertainty' that patients endure as a result-apart from what decision they make-is crucial to optimizing patient counseling, satisfaction and outcomes in the field of ART. Derived from psychological theory, the framework proposed here identifies three categories of contributing factors to decisional distress and uncertainty in considering PGT-M; namely, 'intraindividual', 'interpersonal' and 'situational' factors. We reviewed evidence from the PGT literature to inform our framework. Well-accepted theories of stress and health decision making were also reviewed for their relevance to PGT-M decision making, focusing on potential distress and uncertainty. Our novel conceptual framework can be used to inform clinical practice, to advance research and to aid the development of interventions for individuals and couples who are deciding whether or not to use PGT-M. Alleviating emotional distress and uncertainty can improve patients' well-being during their reproductive journey.

Review of patient decision-making factors and attitudes regarding preimplantation genetic diagnosis.

The increasing technical complexity and evolving options for repro-genetic testing have direct implications for information processing and decision making, yet the research among patients considering preimplantation genetic diagnosis (PGD) is narrowly focused. This review synthesizes the literature regarding patient PGD decision-making factors, and illuminates gaps for future research and clinical translation. Twenty-five articles met the inclusion criteria for evaluating experiences and attitudes of patients directly involved in PGD as an intervention or considering using PGD. Thirteen reports were focused exclusively on a specific disease or condition. Five themes emerged: (1) patients motivated by prospects of a healthy, genetic-variant-free child, (2) PGD requires a commitment of time, money, energy and emotions, (3) patients concerned about logistics and ethics of discarding embryos, (4) some patients feel sense of responsibility to use available technologies, and (5) PGD decisions are complex for individuals and couples. Patient research on PGD decision-making processes has very infrequently used validated instruments, and the data collected through both quantitative and qualitative designs have been inconsistent. Future research for improving clinical counseling is needed to fill many gaps remaining in the literature regarding this decision-making process, and suggestions are offered.

Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.

Monilethrix is an autosomal dominant hair disorder characterized by a beaded appearance of the hair resulting from periodic thinning of the shaft (MIM 158000). The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. Mutations of the helix-encoded region in two hair-specific keratins (hHb1 and hHb6) have been identified as responsible for this disorder. We investigated two unrelated families from Russia and Colombia with monilethrix and found two missense mutations in hHb6. In the Russian family, we found a G to A transition at the first base of codon 402, resulting in a lysine substitution (GAG to AAG), designated E402K. In the Colombian family, affected patients carried a missense mutation of codon 413, involving a transition from G to A causing a lysine substitution (GAG to AAG), designated E413K. These two mutations have been identified in other monilethrix families from Europe. Our findings extend the body of evidence implicating recurrent hHb6 and hHb1 mutations in monilethrix families from around the world.

Tuberous xanthomas in sitosterolemia.

Sitosterolemia is an autosomal recessive lipid disorder in which plasma plant sterol levels are extremely elevated and cholesterol levels are often elevated but may be normal. Clinically sitosterolemia is characterized by xanthomas, premature vascular disease, and arthritis. Adolescent boys and girls with sitosterolemia are susceptible to fatal cardiac events. Dermatologists may have a vital role in the diagnosis of this rare but serious condition because early detection and treatment are important in preventing the associated atherosclerotic heart disease. We present a 7-year-old girl with sitosterolemia and tuberous xanthomas.

Neonatal urticaria due to prostaglandin E1.

Prostaglandin E1 is commonly used in the management of cyanotic congenital heart disease. While cutaneous flushing and peripheral edema are well recognized side effects of prostaglandin E1 therapy, other cutaneous effects have not been described in the dermatologic literature. We report a neonate with transposition of the great vessels who developed urticaria during treatment with prostaglandin E1.

Vascular tumors and vascular malformations: evidence for an association.

BACKGROUND: The International Society for the Study of Vascular Anomalies classification is an updated biologic classification that distinguishes vascular tumors from vascular malformations on the basis of clinical and histologic characteristics and biologic behavior. OBJECTIVE: We propose that in a minority of cases there is an association between vascular tumors and vascular malformations. METHODS: We retrospectively identified clinical cases in our medical centers and others reported in the medical literature that demonstrate an association between vascular tumors and vascular malformation clinically or histologically. RESULTS: We identified several clinical or histologic settings in which vascular tumors and vascular malformations were associated: (1) coexistence of hemangioma and vascular malformation at the same anatomic site or in close proximity; (2) pyogenic granuloma arising within a vascular malformation; (3) hemangioma associated with developmental vascular anomalies; (4) spindle-cell hemangioendothelioma and venous malformation; (5) kaposiform hemangioendothelioma and lymphatic malformation. CONCLUSION: The biologic classification of vascular birthmarks distinguishing vascular tumors from vascular malformations is clinically useful and forms the framework for our understanding of vascular anomalies. These examples suggest that in a small minority of patients there is an association between vascular tumors and vascular malformations.

Cutaneous T cell lymphoma in children.

Cutaneous T cell lymphoma (CTCL) is a term used to describe a heterogeneous group of lymphoproliferative disorders that involve the skin. Mycosis fungoides and Sézary syndrome are two forms of CTCL that arise in adults and are uncommon in children. Dermatologists frequently employ the term CTCL as a synonym for mycosis fungoides and Sézary syndrome. There has been increased recognition that the mycosis fungoides and Sézary syndrome forms of CTCL may arise in children and adolescents. Moreover, younger adults with these types of CTCL report onset of symptoms during adolescence. The literature regarding CTCL in childhood is limited. The purpose of this article is the review the literature regarding CTCL arising in children. The clinical presentation including morphologic variants, diagnosis, prognosis, and management are summarized.

Ultrapotent topical corticosteroid treatment of childhood genital lichen sclerosus.

OBJECTIVE: To observe the clinical effects of short-term application of ultrapotent topical corticosteroid on symptomatic genital lesions of lichen sclerosus in pediatric patients. DESIGN: Case series of 10 prepubertal girls with genital lichen sclerosus. Ultrapotent topical corticosteroids were applied twice daily for 6 to 8 weeks and patients were reexamined at completion of treatment. Long-term follow-up over 6 months to 3 years. SETTING: Pediatric dermatology clinic (referral center). PATIENTS: Ten prepubertal girls with typical clinical features of genital and/or perianal lichen sclerosus. INTERVENTION: Topical ultrapotent corticosteroid ointment was applied sparingly to affected areas for 6 to 8 weeks. MAIN OUTCOME MEASURE: Improvement of erythema, whitening erosions, and atrophy. Subjective improvement of symptoms. RESULTS: All patients showed partial or total subsistence of signs and symptoms of lichen sclerosus. Frequency and severity of recurrences varied, but patients responded within a few days to reapplication of ultrapotent topical corticosteroid. No significant adverse effects were noted after the initial 6- to 8-week course of therapy or during the 6-month to 3-year follow-up period. CONCLUSION: A 6- to 8-week course of ultrapotent topical corticosteroid is a safe and effective treatment for genital lichen sclerosus in pediatric patients.

Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis.

Lamellar ichthyosis (LI) is an autosomal recessive disorder of cornification. Mutations in the transglutaminase 1 gene (TGM1) have been identified in several families with this disorder. We analyzed two unrelated families with offspring affected with LI. Family 1 included affected monozygotic twins, in which a homozygous G-to-T transversion was identified in exon 6 at amino acid residue R315L. This mutation was also identified in the unaffected mother. In family 2, which consisted of one affected infant, a T-to-G transversion in exon 8 resulted in a change of phenylalanine to valine, F400V, and a C-to-T transition in exon 4 resulted in a change of proline to leucine, P248L. In this family, the mutation F400V was found in the unaffected father, and the mutation P248L was identified in the unaffected mother. These findings extend the growing body of literature documenting mutations in the TGM1 gene as the molecular basis of certain cases of lamellar ichthyosis.

Molecular epidemiology of staphylococcal scalded skin syndrome in premature infants.

BACKGROUND: Outbreaks of nosocomial staphylococcal scalded skin syndrome (SSSS) in infants have been well-described associated with the well baby nursery or delivery room. We describe two cases of SSSS in very low birth weight infants in a neonatal intensive care unit (NICU) and the success of infection control strategies used to prevent an outbreak. METHODS: Staphylococcal scalded skin syndrome was diagnosed in two infants in the NICU: Case I (a 47-day-old, formerly 530-g female); and Case II diagnosed 48 h later (a 41-day old, formerly 706-g female). Multiple infection control measures were implemented: (1) isolation and intravenous antibiotic treatment of cases; (2) placement of exposed infants into a cohort; (3) prophylactic mupirocin treatment of the anterior nares of all infants in the NICU and staff colonized with Staphylococcus aureus; and (4) personnel hand washing with hexachlorophene. Detection of exfoliative toxin A and studies to determine the genetic relatedness of S. aureus strains isolated from patients and staff were performed. RESULTS: In addition to the two SSSS cases, S. aureus was isolated from 2 of 12 (17%) exposed asymptomatic infants, 2 of 20 (10%) ancillary staff, 8 of 30 (27%) nurses and 6 of 24 (25%) physicians. Exfoliative toxin A-producing strains were isolated from both cases and one asymptomatic infant. No toxin was expressed by strains isolated from staff. Pulse field gel electrophoresis demonstrated genetically identical strains of S. aureus from the two SSSS cases and the asymptomatic infant, whereas three staff members harbored strains genetically related to the case strain. Unexpectedly two additional unique clusters of genetically related S. aureus strains were identified from the surveillance cultures. CONCLUSIONS: This report documents the rare occurrence of nosocomial SSSS attributed to transmission in the NICU among extremely low birth weight infants. Multiple infection control strategies were effective in limiting the outbreak. Molecular epidemiology investigation supported a unique S. aureus strain responsible for this event and the presence of bidirectional spread between staff and patients of non-toxin-producing strains.

Photosensitivity in the pediatric patient.

Photosensitivity in the pediatric patient is caused by a diverse group of disorders. It may indicate a serious underlying systemic disease such as lupus erythematosus or dermatomyositis, or be an early symptom of a rare group of genetic disorders that includes the porphyrias, xeroderma pigmentosum, Cockayne syndrome, Bloom syndrome, and Rothmund-Thomson syndrome. Idiopathic disorders and ultraviolet light-induced reactions to topical or systemic agents may also cause photosensitivity in children. Early recognition and prompt diagnosis may prevent complications associated with prolonged unprotected exposure to sunlight and permit recognition of families at risk for rare heritable disorders associated with photosensitivity.