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International Journal of Molecular... Feb 2024Patients with pathological nipple discharge (PND) often undergo local surgical procedures because standard radiologic imaging fails to identify the underlying cause....
Patients with pathological nipple discharge (PND) often undergo local surgical procedures because standard radiologic imaging fails to identify the underlying cause. MicroRNA (MiRNA) expression analysis of nipple fluid holds potential for distinguishing between breast diseases. This study aimed to compare miRNA expression levels between nipple fluids from patients with PND to identify possible relevant miRNAs that could differentiate between intraductal papillomas and no abnormalities in the breast tissue. Nipple fluid samples from patients with PND without radiological and pathological suspicion for malignancy who underwent a ductoscopy procedure were analyzed. We used univariate and multivariate regression analyses to identify nipple fluid miRNAs differing between pathologically confirmed papillomas and breast tissue without abnormalities. A total of 27 nipple fluid samples from patients with PND were included for miRNA expression analysis. Out of the 22 miRNAs examined, only miR-145-5p was significantly differentially expressed (upregulated) in nipple fluid from patients with an intraductal papilloma compared to patients showing no breast abnormalities (OR 4.76, = 0.046), with a diagnostic accuracy of 92%. miR-145-5p expression in nipple fluid differs for intraductal papillomas and breast tissue without abnormalities and, therefore, has potential as a diagnostic marker to signal presence of papillomas in PND patients. However, further refinement and validation in clinical trials are necessary to establish its clinical applicability.
Topics: Humans; Female; Papilloma, Intraductal; Endoscopy; Nipple Discharge; Breast Neoplasms; Breast Diseases; Nipples; MicroRNAs; Papilloma
PubMed: 38339089
DOI: 10.3390/ijms25031812 -
Supportive Care in Cancer : Official... Feb 2024The dermopigmentation of the Nipple-Areola Complex (NAC) is a safe non-surgical reconstruction technique that can restore psychophysical integrity, representing the... (Review)
Review
PURPOSE
The dermopigmentation of the Nipple-Areola Complex (NAC) is a safe non-surgical reconstruction technique that can restore psychophysical integrity, representing the final step after oncological surgery. This scoping review aims to identify and synthesize the literature focused on medical tattooing for NAC reconstruction in women who underwent breast reconstruction after cancer surgery. Competence and training, outcomes and organizational aspects were assessed as specific outcomes.
METHODS
The Joanna Briggs Institute (JBI) methodology for scoping reviews was followed. MEDLINE, Embase, Cochrane Library, Clinical Key, Scopus and Cinahl databases were consulted. After title (N = 54) and abstract (N = 39) screening and full-text review (N = 18), articles that met eligibility criteria were analyzed, critically apprised and narratively synthesized.
RESULTS
13 articles were analysed, with full texts (N = 11) and only abstract (N = 2). The overall quality of the literature (N observational studies = 11; N pilot experimental studies = 2) is weak. Nurses were the professionals mostly involved (N = 6), then medical staff (N = 4) and tattoo artists (N = 2). The professional training is poorly described in 6 papers. The most frequently assessed outcome was the satisfaction rate (N = 8). One study explored aspects of quality of life with a validated questionnaire. The management of these services resulted variable. Nurse-led services were implemented in 2 studies.
CONCLUSION
Despite methodological weaknesses, NAC tattooing research is relevant because it helps women redefine their identity after demolitive cancer treatments. Further research on processes and outcomes is needed.
Topics: Female; Humans; Tattooing; Nipples; Quality of Life; Mastectomy; Mammaplasty; Breast Neoplasms; Retrospective Studies
PubMed: 38337084
DOI: 10.1007/s00520-024-08351-3 -
Plastic and Reconstructive Surgery.... Feb 2024For transmasculine individuals, double-incision mastectomy with free nipple grafts is the most common procedure for gender-affirming chest masculinization. However,...
BACKGROUND
For transmasculine individuals, double-incision mastectomy with free nipple grafts is the most common procedure for gender-affirming chest masculinization. However, patients report decreased sensation postoperatively. Direct coaptation of intercostal nerves to the nipple-areolar complex (NAC) is an experimental technique that may preserve postoperative sensation, yet whether reimbursements and billing codes incentivize hospital systems and surgeons to offer this procedure lacks clarity.
METHODS
A retrospective cross-sectional analysis of fiscal year 2023 Medicare physician fee schedule values was performed for neurotization procedures employing Current Procedural Terminology codes specified by prior studies for neurotization of the NAC. Additionally, operative times for gender-affirming mastectomy at a single center were examined to compare efficiency between procedures with and without neurotization included.
RESULTS
A total of 29 encounters were included in the study, with 11 (37.9%) receiving neurotization. The mean operating time was 100.3 minutes (95% CI, 89.2-111.5) without neurotization and 154.2 minutes (95% CI, 139.9-168.4) with neurotization. In 2023, the average work relative value units (wRVUs) for neurotization procedures was 13.38. Efficiency for gender-affirming mastectomy was 0.23 wRVUs per minute without neurotization and 0.24 wRVUs per minute with neurotization, yielding a difference of 0.01 wRVUs per minute.
CONCLUSIONS
Neurotization of the NAC during double-incision mastectomy with free nipple grafts is an experimental technique that may improve patient sensation after surgery. Current reimbursement policy appropriately values the additional operative time associated with neurotization relative to gender-affirming mastectomy alone.
PubMed: 38333028
DOI: 10.1097/GOX.0000000000005605 -
Journal of Cutaneous and Aesthetic... 2023Ptosis and volume atrophy of the breasts are common symptoms for various ages of women and may induce a considerable amount of stress in daily life. Periareolar...
BACKGROUND
Ptosis and volume atrophy of the breasts are common symptoms for various ages of women and may induce a considerable amount of stress in daily life. Periareolar augmentation mastopexy is an effective procedure for such conditions, and planning the new nipple position is very important.
AIM
To provide a simple, straightforward planning and walkthrough of this operation in a journey to find the ideal level of breast lifting for natural upper fullness.
MATERIALS AND METHODS
From January 2019 to December 2021, a total of 193 patients with volume deflation and ptosis of the breast received periareolar augmentation mastopexy in our institute. We retrospectively reviewed data on demographics, surgical procedures, outcomes, and complications.
RESULTS
All operations were done with periareolar incisions, and the mean follow-up period was 29.48 ± 9.11 months. The Likert scale of outcome satisfaction scored 9.02 ± 0.61. Complications were minimal, and no symmastia or bottoming out occurred.
CONCLUSION
We present our basic strategies of periareolar augmentation mastopexy with a slight modification of the design. We believe that lifting the nipple to 3-4 cm above the inframammary fold (IMF) (making the top of the areola about 5-6 cm above the IMF) yields satisfactory aesthetic results.
PubMed: 38314368
DOI: 10.4103/JCAS.JCAS_42_23 -
Cureus Jan 2024Noonan syndrome is a genetic, developmental disorder characterized by facial deformities, congenital heart defects, webbed neck, wide space nipples, and growth hormone...
Noonan syndrome is a genetic, developmental disorder characterized by facial deformities, congenital heart defects, webbed neck, wide space nipples, and growth hormone deficiencies. We report a case of a 15-year-old female patient who presented to the outpatient department with recurrent puffiness of both eyes, easy fatiguability, and dyspnea on exertion. The condition was associated with bilateral proximal muscular weakness of lower limbs with positive Gower's sign. On examination, the patient had a webbed neck, hypertelorism, a shielded chest, short stature, and a high-arched palate. Thyroid function tests revealed hypothyroidism. Chromosomal analysis revealed 46 XX. After excluding Turner syndrome on karyotyping, Noonan syndrome with hypothyroidism was diagnosed. The patient was started on levothyroxine and referred to a pediatric endocrinologist for further growth and development assessment. Autoimmune hypothyroidism in a patient with Noonan Syndrome is rare; it may occur as a separate entity or have some genetic susceptibility. Further research is needed to determine the association of autoimmune hypothyroidism with Noonan syndrome.
PubMed: 38313927
DOI: 10.7759/cureus.51592 -
Molecular Genetics & Genomic Medicine Jan 2024Epiphyseal, Vertebral, Ear, and Nose (EVEN)-PLUS syndrome is a rare condition characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose, plus other... (Review)
Review
BACKGROUND
Epiphyseal, Vertebral, Ear, and Nose (EVEN)-PLUS syndrome is a rare condition characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose, plus other associated findings, due to pathogenic variants in the HSPA9 gene. Due to the sparse number of patients, the clinical phenotypic spectrum is not clear.
METHODS
We report two patients with pathogenic HSPA9 variants from a Chinese family. Besides the core clinical features of EVEN-PLUS syndrome, the two cases had seizures, developmental delay, and basal ganglia lesions in cerebral MRI. We also reviewed the previously published reports of patients with biallelic pathogenic HSPA9 variants.
RESULTS
Together with the presented cases, 12 cases (9 females) were identified from 6 relevant research items for analysis. All patients had synophrys or arched eyebrows, hypoplastic or dysplastic ears, hypoplastic nasal bone, and dysplastic femoral head. Other specific craniofacial features (such as triangular nares), abnormal skeletal presentations (such as bifid femur, dysplastic epiphyses at the knee, dysplastic acetabula, delayed ossification, short stature, vertebral clefting, scoliosis, and dislocated patellae), congenital heart defects, and renal alterations are common clinical features. Two patients had seizures and basal ganglia lesions in cerebral MRI. Infrequent features, such as aplasia cutis, short thorax and sternum, and widely spaced nipples, are also observed in the syndrome. Thirteen variants associated with EVEN-PLUS syndrome have been reported.
CONCLUSIONS
HSPA9 gene mutations should be suspected in all cases with specific craniofacial features, abnormal skeletal presentations, congenital heart defects, and renal alterations. Seizures and basal ganglia lesions are a new phenotype of EVEN-PLUS syndrome.
Topics: Female; Humans; China; Heart Defects, Congenital; Mutation; Phenotype; Seizures; Syndrome; Male
PubMed: 38284453
DOI: 10.1002/mgg3.2335 -
Indian Dermatology Online Journal 2024
PubMed: 38283014
DOI: 10.4103/idoj.idoj_65_23 -
European Journal of Medical Genetics Apr 2024TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft lip/palate,...
TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft lip/palate, acromelic malformation, split-hand/foot malformation/syndactyly, ankyloblepharon filiforme adnatum, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3), Limb-mammary syndrome (LMS), Acro-dermo-ungual-lacrimal-tooth syndrome (ADULT), Rapp-Hodgkin syndrome (RHS), Split-hand/foot malformation 4 (SHFM4), and Orofacial cleft 8. We report on five unrelated families with 8 affected individuals in which the probands presented with varying combinations of ectodermal dysplasia, cleft lip/palate, split-hand/foot malformation, lacrimal duct obstruction, and ankyloblepharon filiforme adnatum. The clinical diagnosis involved AEC syndrome (2 patients), EEC3 syndrome (2 patients), and a yet hitherto unclassified TP63-related disorder. Sanger sequence analysis of the TP63 gene was performed revealing five different variants among which four were novel and three were de novo. The identificated TP63 variants co-segregated with the other affected individuals in the families. The abnormalities of ectoderm derived structures including hair, nails, sweat glands, and teeth should alert the physician to the possibility of TP63-related disorders particularly in the presence of orofacial clefting.
Topics: Adult; Humans; Cleft Lip; Cleft Palate; Mutation; Lacrimal Duct Obstruction; Transcription Factors; Ectodermal Dysplasia; Syndrome; Tumor Suppressor Proteins; Eyelids; Foot Deformities, Congenital; Fingers; Eye Abnormalities; Limb Deformities, Congenital; Hand Deformities, Congenital
PubMed: 38281558
DOI: 10.1016/j.ejmg.2024.104911 -
Healthcare (Basel, Switzerland) Jan 2024Measurements of breast morphology are a determinant of the assessment of any surgical procedure, either reconstructive or cosmetic. This study aims to investigate the...
BACKGROUND
Measurements of breast morphology are a determinant of the assessment of any surgical procedure, either reconstructive or cosmetic. This study aims to investigate the association between easy anthropometric measurements and values of quality of life assessed in a sample of asymptomatic women.
METHODOLOGY
Healthy asymptomatic women were admitted for this study. The following measurements were assessed: height, weight, nipple to sternal notch distance, areola to infra-mammary fold distance (right vs. left), right-left nipple distance. The Breast Q questionnaire (Italian translation V.1, pre-op breast conservation surgery) in the following domains: satisfaction with breasts; psycho-social satisfaction; physical satisfaction; sexual satisfaction, which was used to assess breast-related quality of life.
RESULTS
One hundred and forty-five women responded to the breast Q questionnaire. The mean age of the sample was 44.3 years; the medium BMI was 24.1; Spearman correlation coefficients revealed that all the investigated values were negatively correlated to the "satisfaction with breasts" domain. Psychosexual satisfaction was associated with age; BMI; nipple to sternal notch distance. After normalization for age values, we observed that "satisfaction with breast" was, once again, highly correlated to BMI; nipple to sternal notch distance; areola to IMF distance. In all cases, the higher the values, the lower the scores.
CONCLUSIONS
Distances between easy relevant anatomical landmarks are representative of patients' breast-related quality of life in a population of asymptomatic women. These findings allow us to identify an ideal anthropometric framework that can be used as a validated surgical endpoint for cosmetic and oncological procedures.
PubMed: 38275547
DOI: 10.3390/healthcare12020268 -
The American Journal of Case Reports Jan 2024BACKGROUND For patients with cN0 breast cancer, sentinel node biopsy (SNB) is performed to confirm metastasis. When cancer recurs after a breast/axillary surgery,...
Lymphoscintigraphy and Single-Photon Emission Computed Tomography (SPECT)/CT to Determine Need for Second Sentinel Lymph Node Biopsy for Breast Cancer Recurrence Following Ipsilateral Breast/Axillary Surgery.
BACKGROUND For patients with cN0 breast cancer, sentinel node biopsy (SNB) is performed to confirm metastasis. When cancer recurs after a breast/axillary surgery, performing a second SNB is debatable in terms of its accuracy and significance. However, SNB is often performed because it is less invasive and can provide significant information. This report describes our experience of performing lymphoscintigraphy and single-photon emission computed tomography (SPECT)/CT to determine whether SNB is informative or not in patients who develop ipsilateral breast tumor recurrence (IBTR) following a breast/axillary surgery. CASE REPORT We included 9 patients with breast cancer and a history of ipsilateral breast/axillary surgery who underwent lymphoscintigraphy and SPECT/CT between April 2020 and July 2023. For lymphoscintigraphy, 20-25 MBq of 99mTc-phytate was injected subcutaneously in the areola, and planar images and SPECT/CT were taken at 15 min and 3 h after the injection. In lymphoscintigraphy, radioisotope accumulation was detected in 2 patients at 15 min and 8 patients at 3 h; it was not detected in 1 patient. The accumulation site was only the axilla in 3 patients; other sites including the axilla in 3, and sites outside the axilla in 2. CONCLUSIONS When a patient who previously underwent breast/axillary surgery develops IBTR, the initial surgery may have altered the lymphatic flow. The lymphatic flow varied between the contralateral or ipsilateral internal mammary lymph nodes, contralateral axilla, multidirectional flow, and the axilla alone. Lymphoscintigraphy and SPECT/CT may be useful for early determination of the need for another SNB.
Topics: Humans; Female; Breast Neoplasms; Lymphoscintigraphy; Sentinel Lymph Node Biopsy; Axilla; Neoplasm Recurrence, Local; Nipples; Tomography, Emission-Computed, Single-Photon; Tomography, X-Ray Computed
PubMed: 38268185
DOI: 10.12659/AJCR.942424