Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism ( < em > FBP1, ACAD9) < /em > and vesicle trafficking < em > (RAB27A) < /em >
We present a unique consanguineous family with a history of Hodgkin lymphoma, impaired EBV control and a late onset hemophagocytic lymphohistiocytosis (HLH).METHODS AND RESULTS: Overall, family members presented with variable impairment of NK cell and cytotoxic T cell degranulation and cytotoxicity. Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fructose-1,6-bisphosphatase 1) and ACAD9 (Acyl-CoA dehydrogenase family member 9). Variants in RAB27A lead to Griscelli syndrome type 2, hypopigmentation and HLH predisposition.DISCUSSION: Lymphoma is frequently seen in patients with hypomorphic mutations of genes...
Source: Cancer Control - June 30, 2023 Category: Cancer & Oncology Authors: Nina Brauer Yuto Maruta Miriam Lisci Katharina Strege Ilske Oschlies Hikari Nakamura Svea B öhm Kai Lehmberg Leon Brandhoff Stephan Ehl Nima Parvaneh Wolfram Klapper Mitsunori Fukuda Gillian M Griffiths Hans Christian Hennies Tim Niehues Sandra Ammann Source Type: research
Molecules, Vol. 28, Pages 4839: Skin Pigmentation Types, Causes and Treatment & mdash;A Review
Molecules, Vol. 28, Pages 4839: Skin Pigmentation Types, Causes and Treatment—A Review
Molecules doi: 10.3390/molecules28124839
Authors:
Amin Mahmood Thawabteh
Alaa Jibreen
Donia Karaman
Alà Thawabteh
Rafik Karaman
Human skin pigmentation and melanin synthesis are incredibly variable, and are impacted by genetics, UV exposure, and some drugs. Patients&rsquo; physical appearance, psychological health, and social functioning are all impacted by a sizable number of skin conditions that cause pigmentary abnormalities. Hyperpigmentation, where pigment appears to overflow, and hypopigmentation,...
Source: Molecules - June 18, 2023 Category: Chemistry Authors: Amin Mahmood Thawabteh Alaa Jibreen Donia Karaman Al à Thawabteh Rafik Karaman Tags: Review Source Type: research
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)
We present a unique consanguineous family with a history of Hodgkin lymphoma, impaired EBV control and a late onset hemophagocytic lymphohistiocytosis (HLH).Methods and resultsOverall, family members presented with variable impairment of NK cell and cytotoxic T cell degranulation and cytotoxicity. Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fructose-1,6-bisphosphatase 1) and ACAD9 (Acyl-CoA dehydrogenase family member 9). Variants in RAB27A lead to Griscelli syndrome type 2, hypopigmentation and HLH predisposition.DiscussionLymphoma is frequently seen in patients with hypomorphic mutations of genes pre...
Source: Frontiers in Immunology - June 14, 2023 Category: Allergy & Immunology Source Type: research
A rare case of hyperpigmented torpedo maculopathy
CONCLUSION: A torpedo lesion with diffuse hyperpigmentation is an unusually rare presentation.PMID:37309137 | DOI:10.1177/11206721231182736 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - June 13, 2023 Category: Opthalmology Authors: Sai Prashanti Chitturi Ramesh Venkatesh Ashit Handa Rubble Mangla Jay Chhablani Source Type: research
A rare case of hyperpigmented torpedo maculopathy
CONCLUSION: A torpedo lesion with diffuse hyperpigmentation is an unusually rare presentation.PMID:37309137 | DOI:10.1177/11206721231182736 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - June 13, 2023 Category: Opthalmology Authors: Sai Prashanti Chitturi Ramesh Venkatesh Ashit Handa Rubble Mangla Jay Chhablani Source Type: research
Ablative Laser Therapy of Skin
Laser skin rejuvenation was introduced in the mid-1990s. Early ablative laser devices relied on scanner technology that provided significant ablation and longer time on tissue treatments. These early treatments provided significant improvement in the appearance of the skin, but because of the longer treatment times and in some cases excessive treatment, complications such as scarring and hypopigmentation were significant. More recent advances in skin resurfacing technology have now minimized these risks providing certain key principles are observed. These parameters are reviewed in detail to improve the reader ’s ability...
Source: Facial Plastic Surgery Clinics of North America - June 13, 2023 Category: Cosmetic Surgery Authors: J. Kevin Duplechain Source Type: research
Liposuction versus Periareolar Excision Approach for Gynecomastia Treatment
CONCLUSIONS: The management of GM by liposuction, either with the periareolar excision technique or without skin incision, allows the effective removal of fat and glandular tissue of the male breast. Although there was no significant difference regarding postoperation complications between groups, patients' satisfaction should be considered.PMID:37288017 | PMC:PMC10241644 | DOI:10.4103/abr.abr_374_21 (Source: Biomed Res)
Source: Biomed Res - June 8, 2023 Category: Research Authors: Hossein Abdali Mehdi Rasti Mehrdad Adib Parsa Sina Seyedipour Negah Tavakoli-Fard Source Type: research
Liposuction versus Periareolar Excision Approach for Gynecomastia Treatment
CONCLUSIONS: The management of GM by liposuction, either with the periareolar excision technique or without skin incision, allows the effective removal of fat and glandular tissue of the male breast. Although there was no significant difference regarding postoperation complications between groups, patients' satisfaction should be considered.PMID:37288017 | PMC:PMC10241644 | DOI:10.4103/abr.abr_374_21 (Source: Adv Data)
Source: Adv Data - June 8, 2023 Category: Epidemiology Authors: Hossein Abdali Mehdi Rasti Mehrdad Adib Parsa Sina Seyedipour Negah Tavakoli-Fard Source Type: research
Liposuction versus Periareolar Excision Approach for Gynecomastia Treatment
CONCLUSIONS: The management of GM by liposuction, either with the periareolar excision technique or without skin incision, allows the effective removal of fat and glandular tissue of the male breast. Although there was no significant difference regarding postoperation complications between groups, patients' satisfaction should be considered.PMID:37288017 | PMC:PMC10241644 | DOI:10.4103/abr.abr_374_21 (Source: Biomed Res)
Source: Biomed Res - June 8, 2023 Category: Research Authors: Hossein Abdali Mehdi Rasti Mehrdad Adib Parsa Sina Seyedipour Negah Tavakoli-Fard Source Type: research
Liposuction versus Periareolar Excision Approach for Gynecomastia Treatment
CONCLUSIONS: The management of GM by liposuction, either with the periareolar excision technique or without skin incision, allows the effective removal of fat and glandular tissue of the male breast. Although there was no significant difference regarding postoperation complications between groups, patients' satisfaction should be considered.PMID:37288017 | PMC:PMC10241644 | DOI:10.4103/abr.abr_374_21 (Source: Adv Data)
Source: Adv Data - June 8, 2023 Category: Epidemiology Authors: Hossein Abdali Mehdi Rasti Mehrdad Adib Parsa Sina Seyedipour Negah Tavakoli-Fard Source Type: research
Laser treatment for Cafe-au-lait Macules: a systematic review and meta-analysis
AbstractNowadays, laser is the mainstay treatment for cafe-au-lait macules (CALMs), but no systematic review has been published to demonstrate the overall efficacy and it ’s still controversial which type of laser is optimal. Thus, we conduct the meta-analysis to evaluate the effectiveness and side effects of various types of lasers in treating CALMs. Original articles reporting the efficacy and side effects for CALMs in laser treatment were identified in PubMed, E MBASE, and Web of Science from 1983 to April 11, 2023. Using R software and the ‘meta’ package, meta-analysis was conducted for clearance and recurrence f...
Source: European Journal of Medical Research - June 8, 2023 Category: Research Source Type: research
Molecules, Vol. 28, Pages 4551: 6-Methylcoumarin Promotes Melanogenesis through the PKA/CREB, MAPK, AKT/PI3K, and GSK3 & beta;/ & beta;-Catenin Signaling Pathways
Molecules, Vol. 28, Pages 4551: 6-Methylcoumarin Promotes Melanogenesis through the PKA/CREB, MAPK, AKT/PI3K, and GSK3β/β-Catenin Signaling Pathways
Molecules doi: 10.3390/molecules28114551
Authors:
Taejin Kim
Jin-Kyu Kang
Chang-Gu Hyun
We investigated the effects of four coumarin derivatives, namely, 6-methylcoumarin, 7-methylcoumarin, 4-hydroxy-6-methylcoumarin, and 4-hydroxy-7-methylcoumarin, which have similar structures on melanogenesis in a murine melanoma cell line from a C57BL/6J mouse called B16F10. Our results showed that only 6-methylcoumarin significantly increased the melanin synt...
Source: Molecules - June 5, 2023 Category: Chemistry Authors: Taejin Kim Jin-Kyu Kang Chang-Gu Hyun Tags: Article Source Type: research
Intermittent inhibition of FYVE finger-containing phosphoinositide kinase induces melanosome degradation in B16F10 melanoma cells
CONCLUSIONS: In conclusion, disturbance of PIKfyve activity induces melanosome degradation in a canonical autophagy-independent manner.PMID:37248430 | DOI:10.1007/s11033-023-08536-9 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - May 29, 2023 Category: Molecular Biology Authors: Kyoka Kawaguchi Miyu Watanabe Saho Furukawa Kenichi Koga Hiromitsu Kanamori Mitsushi J Ikemoto Shigeo Takashima Miwa Maeda Kentaro Oh-Hashi Yoko Hirata Kyoji Furuta Hiroshi Takemori Source Type: research
Evaluation of the efficacy of Nd:YAG laser in the treatment of 80 patients with oral mucosal venous malformation
CONCLUSIONS: Nd:YAG laser is an effective and safe treatment for oral mucosal venous malformation with definite efficacy and few side effects, which is worthy of popularization and application.PMID:37153998 (Source: Shanghai Journal of Stomatology)
Source: Shanghai Journal of Stomatology - May 8, 2023 Category: Dentistry Authors: Ning Zhao Li-Ying Sun Yun-Ling Li Chuan Ma Zhen Cai Chao Zhu Source Type: research
Evaluation of the efficacy of Nd:YAG laser in the treatment of 80 patients with oral mucosal venous malformation
CONCLUSIONS: Nd:YAG laser is an effective and safe treatment for oral mucosal venous malformation with definite efficacy and few side effects, which is worthy of popularization and application.PMID:37153998 (Source: Shanghai Journal of Stomatology)
Source: Shanghai Journal of Stomatology - May 8, 2023 Category: Dentistry Authors: Ning Zhao Li-Ying Sun Yun-Ling Li Chuan Ma Zhen Cai Chao Zhu Source Type: research
