Back to the Basics: Usefulness of Naturally Aged Mouse Models and Immunohistochemical and Quantitative Morphologic Methods in Studying Mechanisms of Lung Aging and Associated Diseases.

Aging-related molecular and cellular alterations in the lung contribute to an increased susceptibility of the elderly to devastating diseases. Although the study of the aging process in the lung may benefit from the use of genetically modified mouse models and omics techniques, these approaches are still not available to most researchers and produce complex results. In this article, we review works that used naturally aged mouse models, together with immunohistochemistry (IHC) and quantitative morphologic (QM) methods in the study of the mechanisms of the aging process in the lung and its most commonly associated disorders: cancer, chronic obstructive pulmonary disease (COPD), and infectious diseases. The advantage of using naturally aged mice is that they present characteristics similar to those observed in human aging. The advantage of using IHC and QM methods lies in their simplicity, economic accessibility, and easy interpretation, in addition to the fact that they provide extremely important information. The study of the aging process in the lung and its associated diseases could allow the design of appropriate therapeutic strategies, which is extremely important considering that life expectancy and the number of elderly people continue to increase considerably worldwide.

Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine.

Gynecologic cancers are among the leading causes of death worldwide, ovarian cancer being the one with the highest mortality rate. Olaparib is a targeted therapy used in patients presenting mutations in BRCA1 and BRCA2 genes. The aim of this study was to describe BRCA1 and BRCA2 gene variants in Mexican patients with ovarian cancer. Sequencing of BRCA1 and BRCA2 genes from tumors of 50 Mexican patients with ovarian cancer was made in a retrospective, non-randomized, and exploratory study. We found genetic variants in 48 of 50 cases. A total of 76 polymorphic variants were found in BRCA1, of which 50 (66%) had not been previously reported. Furthermore, 104 polymorphic variants were found in BRCA2, of which 63 (60%) had not been reported previously. Of these polymorphisms, 5/76 (6.6%) and 4/104 (3.8%) were classified as pathogenic in BRCA1 and BRCA2, respectively. We have described the genetic variants in BRCA1 and BRCA2 of tumors from Northeast Mexican patients with sporadic ovarian cancers. Our results showed that the use of genetic testing helps recognize patients that carry pathogenic variants which could be beneficial for personalized medicine treatments.

Escalating dosimetry of UVA-1 in the treatment of alopecia areata.

BACKGROUND: Phototherapy can be an option in unresponsive alopecia areata (AA); however, variable results have been reported with its use. We could not find literature of treatment with UVA-1 in AA. A study was designed to evaluate progressive dosimetry to determine the initial dose and its increments. METHODS: Patients with unresponsive AA were recruited. Twenty-five sessions of 30 J/cm2 were administered. If hair regrowth was <75%, the dose was escalated to 60 J/cm2 . If hair improvement remained <75%, an additional 25 sessions at 120 J/cm2 were indicated. If total hair regrowth occurred before 75 sessions, a final visit was performed for biopsies and severity of alopecia tool (SALT) evaluation. Clinical and histopathological assessments were performed blindly. Adverse effects were recorded. RESULTS: Nine men and 13 women were included; 16 were initially S1 , one S3 , and five S4 . Median age was 32 years and median evolution 10 months. Nine patients achieved an S0 , eight S1 , and five S4 (P = 0.005). The most notable improvement was with 60 J/cm2 (P = 0.02). Biopsies exhibited an absence of inflammation in five patients and mild persistence in 17. An increase of 43.75% in anagen hairs (P ≤ 0.001) was achieved, telogen hairs decreased 16.3% (P = 0.06), and catagen hairs were reduced 22.7% (P = 0.005). Pearson's correlation was -0.82 and P ≤ 0.001, when correlating anagen hairs with final SALT. Improvement has continued for 6 months post treatment. Mild xerosis was observed in all patients, and six (28.6%) developed transient mild hyperpigmentation. CONCLUSIONS: This study provides a basis for UVA-1 dosimetry evaluating its therapeutic value in AA.

Balloon Cell Melanoma and Its Metastasis, a Rare Entity.

Balloon cell melanoma (BCM) with metastasis is a rarely occurring neoplasia. The incidence of BCM is low, and hence, the frequency of these lesions presenting metastasis is even less frequent. This review exposes the balloon cell metastasis cases that have been published and a new case. These cases share the histopathological features but the location of initial melanoma, age and sex vary. It is relevant for the dermatologist and dermatopathologist to keep in mind the diagnosis of BCM and consider the possibility of it metastasizing as nonpigmented skin lesions.

A case report of small bowel perforation secondary to cytomegalovirus related immune reconstitution inflammatory syndrome in an AIDS patient.

Non-traumatic small bowel perforation is rare in adults but carries a high morbidity and mortality. The diagnosis is made on clinical suspicion, and the most common causes in developing countries are infectious diseases, being cytomegalovirus infection in immunocompromised patients the main etiology. We describe a patient with a recently diagnosed advanced stage HIV infection and an intestinal perforation associated with cytomegalovirus immune reconstitution inflammatory syndrome after highly active antiretroviral therapy initiation.

Fatal Outcome from Brain Vascular Lesions in a Neonate with Blue Rubber Bleb Nevus Syndrome.

The most common cause of death in blue rubber bleb nevus syndrome is gastrointestinal bleeding. Here we present a case of central nervous system bleeding that resulted in death.

Ulcerated radiodermatitis induced after fluoroscopically guided stent implantation angioplasty.

Cases of radiation-induced skin injury after fluoroscopically guided procedures have been reported since 1996, though the majority of them have been published in Radiology and Cardiology literature, less frequently in Dermatology journals. Chronic radiation dermatitis induced by fluoroscopy can be difficult to diagnose; a high grade of suspicion is required. We report a case of an obese 46-year-old man with hypertension, dyslipidemia, and severe coronary artery disease. He developed a pruritic and painful atrophic ulcerated skin plaque over his left scapula, six months after fluoroscopically guided stent implantation angioplasty. The diagnosis of radiodermatitis was confirmed histologically. We report this case to emphasize the importance of recognizing fluoroscopy as a cause of radiation dermatitis. A good clinical follow-up at regular intervals is important after long and complicated procedures, since the most prevalent factor for injury is long exposure time.

Angioimmunoblastic T-cell lymphoma: a diagnostic challenge.

Angioimmunoblastic T-cell lymphoma (AITL) accounts for 15-20% of all peripheral T-cell lymphomas. It is a rare subtype of CD4 T-cell peripheral lymphoma that affects aged individuals, causing B symptoms, generalized lymphadenopathy and hepatosplenomegaly. Its pathogenesis is still unclear, but in some cases it has been associated with infection, allergic reaction or drug exposure. The majority of patients are diagnosed in an advanced stage and anthracycline based regimen is considered the first-line therapy. Skin involvement is not well characterized, occurring in up to 50% of patients and presenting as nonspecific rash, macules, papules, petechiae, purpura, nodules and urticaria. We present the illustrative case of a 55-year-old woman with an AITL who presented prominent skin findings, arthritis, lymphadenopathy and hypereosinophilia. Skin biopsy reported a T-cell lymphoma and the diagnosis of AITL was confirmed by an axillary lymph node biopsy, which was also positive for Epstein-Barr virus. Chemotherapy with CHOP-21 and thalidomide was given, accomplishing complete remission after six cycles.

[The imprint cytology: a tool diagnosis in the operating room]. / Impronta citológica: herramienta en el diagnóstico transoperatorio.

BACKGROUND: since 1929, the imprint cytology has a great value in the transoperatory as a diagnostic tool and in some cases as an alternate method. METHODS: during two years period, 416 transoperatory specimens and 384 frozen sections were performed in the Pathology and Cytopathology Department of the University Hospital, "Dr. José E. Gonzalez." Diagnoses were recorded and compared both methods with the final diagnosis given at definitive histological sections. The results were evaluated and p statistics were performed. RESULTS: nine of 416 patients (2.2 %) were incorrectly diagnosed by cytology, and 8 of 384 (2.1 %) by frozen section. The diagnostic accuracy for the imprint cytology was 97.8 % and 97.9 % for frozen section. Six of the 416 cases (1.4 %) were misdiagnosed by imprints and frozen sections; the percentage success was 98.5 % using both methods together. The p was statistically significant (0.0005). CONCLUSIONS: the transoperatory cytology is a fast, easy and inexpensive. It provides morphological detail on intact cells and without the freezing artifacts, so its use as an adjunct to the frozen method is of great value.

Penfigoide ampollar en pediatría: comunicación de un caso / Bullous pemphigoid in children: case report

El penfigoide ampollar es una enfermedad ampollar autoinmune adquirida, que afecta predominantemente a los ancianos y es extremadamente rara en niños. Presentamos el caso de un lactante de 5 meses que ingresa a urgencias por una dermatosis generalizada, caracterizada por ampollas de contenido claro en piel y sin involucrar mucosas. Se corroboró el diagnóstico de penfigoide ampollar por histopatología e inmunofluorescencia directa. El tratamiento consistió en esteroides orales y cuidados de la piel. La paciente ha tenido seguimiento por casi un año y no ha habido recidiva de la enfermedad. El penfigoide ampollar es una enfermedad rara en la infancia, cuya incidencia exacta se desconoce, pero generalmente es de buen pronóstico y su resolución espontánea.

Bullous pemphigoid is an acquired autoimmune disease that mostly affects the elderly and is extremely rare in children. We present the case of a 5 months old infant who was admitted in the emergency department with a generalized dermatosis characterized by skin tense blisters with clear content that spared the mucous membranes. The histopathological and direct immunofluorescence studies confirmed the diagnosis of bullous pemphigoid. The treatment consisted in oral steroids and skin care. The patient has been followed up for almost a year without recurrences. Bullous pemphigoid is a rare disease in childhood with an unknown exact incidence, but with good prognosis and usually self-limited.

A 5-year-old girl with a congenital ganglioneuroma diagnosed by fine needle aspiration biopsy: a case report.

INTRODUCTION: Ganglioneuroma is a rare, benign, neuroblastic tumor arising mainly from the central or peripheral autonomic nervous system, especially the sympathetic system. The most affected anatomical sites are the posterior mediastinum, retroperitoneum, adrenal gland and head and neck soft tissue. In the current literature, reports of ganglioneuroma diagnosed by fine-needle aspiration and its cytological appearance are scarce. CASE PRESENTATION: A 5-year-old girl presented with a mass in the cervical region since birth. Laboratory routine tests were within normal limits, ultrasonography demonstrated a solid and well-circumscribed lesion in the soft tissues of the cervical region. Fine needle aspiration biopsy was carried out, and the obtained smears showed a mixture of mature ganglion cells and groups of spindle cells suggestive of schwann cell origin. A diagnosis of ganglioneuroma was suggested. Core biopsy and surgical resection confirmed this diagnosis. CONCLUSION: Congenital ganglioneuroma of the cervical region is an uncommon soft tissue benign neoplasm of neuroblastic origin, and it should be considered in the differential diagnosis of head and neck pediatric soft tissue tumors. Fine needle aspiration biopsy technique is a reliable method that can be used with confidence when dealing with pediatric soft tissue tumors.