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Survey of Ophthalmology 2023Chalazia are localized cysts of chronic lipogranulomatous inflammation arising from the obstruction of sebaceous glands of the eyelid tarsal plate, including the...
Chalazia are localized cysts of chronic lipogranulomatous inflammation arising from the obstruction of sebaceous glands of the eyelid tarsal plate, including the Meibomian gland (deep chalazion) or Zeis gland (superficial chalazion). This disease entity is differentiated from the hordeolum (stye), an acute purulent localized swelling of the eyelid often associated with an eyelash follicle, Zeis gland, or Moll gland obstruction and infection. Ambiguously, the chalazion, hordeolum, and blepharitis are commonly categorized and described on a continuum in the literature. While it is one of the most common eyelid disorders across all age demographics, the chalazion remains largely understudied and pathophysiological, epidemiological, and therapeutic findings exist fragmented in the literature. We discuss current understandings of the chalazion and provide current best practice guidelines supported by clinical anecdotal evidence.
Topics: Humans; Chalazion; Hordeolum; Eyelid Diseases; Meibomian Glands; Cysts; Inflammation
PubMed: 36395826
DOI: 10.1016/j.survophthal.2022.11.002 -
Cells Apr 2024Neurofibromatosis 1 (NF1) is a multisymptomatic disorder with highly variable presentations, which include short stature, susceptibility to formation of the... (Review)
Review
Neurofibromatosis 1 (NF1) is a multisymptomatic disorder with highly variable presentations, which include short stature, susceptibility to formation of the characteristic benign tumors known as neurofibromas, intense freckling and skin discoloration, and cognitive deficits, which characterize most children with the condition. Attention deficits and Autism Spectrum manifestations augment the compromised learning presented by most patients, leading to behavioral problems and school failure, while fragmented sleep contributes to chronic fatigue and poor quality of life. Neurofibromin (Nf1) is present ubiquitously during human development and postnatally in most neuronal, oligodendrocyte, and Schwann cells. Evidence largely from animal models including suggests that the symptomatic variability may reflect distinct cell-type-specific functions of the protein, which emerge upon its loss, or mutations affecting the different functional domains of the protein. This review summarizes the contributions of in modeling multiple NF1 manifestations, addressing hypotheses regarding the cell-type-specific functions of the protein and exploring the molecular pathways affected upon loss of the highly conserved fly homolog dNf1. Collectively, work in this model not only has efficiently and expediently modelled multiple aspects of the condition and increased understanding of its behavioral manifestations, but also has led to pharmaceutical strategies towards their amelioration.
Topics: Animals; Neurofibromatosis 1; Disease Models, Animal; Humans; Drosophila melanogaster; Drosophila Proteins; Neurofibromin 1; Drosophila
PubMed: 38667335
DOI: 10.3390/cells13080721 -
Proceedings of the National Academy of... May 2023During mouse gametogenesis, germ cells derived from the same progenitor are connected via intercellular bridges forming germline cysts, within which asymmetrical or...
During mouse gametogenesis, germ cells derived from the same progenitor are connected via intercellular bridges forming germline cysts, within which asymmetrical or symmetrical cell fate occurs in female and male germ cells, respectively. Here, we have identified branched cyst structures in mice, and investigated their formation and function in oocyte determination. In fetal female cysts, 16.8% of the germ cells are connected by three or four bridges, namely branching germ cells. These germ cells are preferentially protected from cell death and cyst fragmentation and accumulate cytoplasm and organelles from sister germ cells to become primary oocytes. Changes in cyst structure and differential cell volumes among cyst germ cells suggest that cytoplasmic transport in germline cysts is conducted in a directional manner, in which cellular content is first transported locally between peripheral germ cells and further enriched in branching germ cells, a process causing selective germ cell loss in cysts. Cyst fragmentation occurs extensively in female cysts, but not in male cysts. Male cysts in fetal and adult testes have branched cyst structures, without differential cell fates between germ cells. During fetal cyst formation, E-cadherin (E-cad) junctions between germ cells position intercellular bridges to form branched cysts. Disrupted junction formation in E-cad-depleted cysts led to an altered ratio in branched cysts. Germ cell-specific E-cad knockout resulted in reductions in primary oocyte number and oocyte size. These findings shed light on how oocyte fate is determined within mouse germline cysts.
Topics: Male; Female; Animals; Mice; Oocytes; Germ Cells; Cytoplasm; Organelles; Gametogenesis; Cysts; Oogenesis
PubMed: 37155904
DOI: 10.1073/pnas.2219683120 -
Nature Communications Oct 2023Fibrocystin/Polyductin (FPC), encoded by PKHD1, is associated with autosomal recessive polycystic kidney disease (ARPKD), yet its precise role in cystogenesis remains...
Fibrocystin/Polyductin (FPC), encoded by PKHD1, is associated with autosomal recessive polycystic kidney disease (ARPKD), yet its precise role in cystogenesis remains unclear. Here we show that FPC undergoes complex proteolytic processing in developing kidneys, generating three soluble C-terminal fragments (ICDs). Notably, ICD, contains a novel mitochondrial targeting sequence at its N-terminus, facilitating its translocation into mitochondria. This enhances mitochondrial respiration in renal epithelial cells, partially restoring impaired mitochondrial function caused by FPC loss. FPC inactivation leads to abnormal ultrastructural morphology of mitochondria in kidney tubules without cyst formation. Moreover, FPC inactivation significantly exacerbates renal cystogenesis and triggers severe pancreatic cystogenesis in a Pkd1 mouse mutant Pkd1 in which cleavage of Pkd1-encoded Polycystin-1 at the GPCR Proteolysis Site is blocked. Deleting ICD enhances renal cystogenesis without inducing pancreatic cysts in Pkd1 mice. These findings reveal a direct link between FPC and a mitochondrial pathway through ICD cleavage, crucial for cystogenesis mechanisms.
Topics: Mice; Animals; Receptors, Cell Surface; Kidney; Polycystic Kidney, Autosomal Recessive; TRPP Cation Channels; Kidney Tubules; Pancreatic Cyst
PubMed: 37845212
DOI: 10.1038/s41467-023-42196-4 -
Journal of the American Society of... 2021The accurate diagnosis of musculoskeletal neoplasms is difficult but a pattern-based approach combined with ancillary testing has been shown to improve diagnostic... (Review)
Review
INTRODUCTION
The accurate diagnosis of musculoskeletal neoplasms is difficult but a pattern-based approach combined with ancillary testing has been shown to improve diagnostic accuracy. The pattern-based approach is particularly appropriate for myxoid lesions.
MATERIALS AND METHODS
The authors reviewed their personal experience of over 3 decades of diagnosing myxoid neoplasms of musculoskeletal lesions.
RESULTS
The authors found that myxoid lesions can be accurately classified based on cell type, nuclear atypia, presence of blood vessel fragments, as well as the results of immunohistochemical and molecular testing.
CONCLUSIONS
Musculoskeletal lesions with a prominence of myxoid or chondroid material in the background can be accurately diagnosed using pattern analysis and ancillary testing.
Topics: Adult; Aged; Biopsy, Fine-Needle; Bone Neoplasms; Chondrosarcoma; Diagnosis, Differential; Female; Fibrosarcoma; Ganglion Cysts; Humans; Liposarcoma, Myxoid; Male; Middle Aged; Myxoma; Soft Tissue Neoplasms; Young Adult
PubMed: 33168472
DOI: 10.1016/j.jasc.2020.09.009 -
Clinical and Experimental Immunology Jul 2022The unmet clinical need for effective treatments in ovarian cancer has yet to be addressed using monoclonal antibodies (mAbs), which have largely failed to overcome... (Review)
Review
The unmet clinical need for effective treatments in ovarian cancer has yet to be addressed using monoclonal antibodies (mAbs), which have largely failed to overcome tumour-associated immunosuppression, restrict cancer growth, and significantly improve survival. In recent years, experimental mAb design has moved away from solely targeting ovarian tumours and instead sought to modulate the wider tumour microenvironment (TME). Tumour-associated macrophages (TAMs) may represent an attractive therapeutic target for mAbs in ovarian cancer due to their high abundance and close proximity to tumour cells and their active involvement in facilitating several pro-tumoural processes. Moreover, the expression of several antibody crystallisable fragment (Fc) receptors and broad phenotypic plasticity of TAMs provide opportunities to modulate TAM polarisation using mAbs to promote anti-tumoural phenotypes. In this review, we discuss the role of TAMs in ovarian cancer TME and the emerging strategies to target the contributions of these cells in tumour progression through the rationale design of mAbs.
Topics: Antibodies, Monoclonal; Female; Humans; Immunotherapy; Leukocyte Count; Macrophages; Neoplasms; Ovarian Neoplasms; Tumor Microenvironment
PubMed: 35020853
DOI: 10.1093/cei/uxab020 -
Clinics in Perinatology Dec 1990This article reviews the application of genetic linkage analysis to molecular prenatal diagnosis using the neurofibromatoses as an example. The clinical manifestations... (Review)
Review
This article reviews the application of genetic linkage analysis to molecular prenatal diagnosis using the neurofibromatoses as an example. The clinical manifestations and diagnostic criteria for these diseases are reviewed first, followed by a brief description of the principles underlying genetic linkage analysis, the detection of DNA polymorphisms and their application to the cloning of the NF1 gene. The last two sections review the molecular diagnosis and some of the problems in prenatal genetic counseling for NF1.
Topics: Blotting, Southern; DNA; Female; Fetal Diseases; Genetic Counseling; Genetic Linkage; Humans; Neurofibromatosis 1; Neuroma, Acoustic; Pedigree; Polymorphism, Restriction Fragment Length; Pregnancy; Prenatal Diagnosis
PubMed: 1981029
DOI: No ID Found -
BMC Surgery Aug 2022Stapled haemorrhoidopexy (SH) has resulted in a unique collection of procedural complications with postoperative mucocele a particularly rare example. This study is...
BACKGROUND
Stapled haemorrhoidopexy (SH) has resulted in a unique collection of procedural complications with postoperative mucocele a particularly rare example. This study is designed to comprehensively describe the characteristics of rectal mucocele and discuss its pathogenesis following SH surgery.
METHODS
A database of patients presenting with a rectal mucocele following an SH procedure was established and studied retrospectively.
RESULTS
Seven patients (5 males; median age 32 years, range 20-75 years) were identified. All patients complained of variable anal discomfort with 5/7 presenting with inconstant anal pain, 2 with de novo evacuatory difficulty. These cases appeared at a median time of 6 months (range 2-84 months) after SH surgery.
CONCLUSION
Rectal Mucocele develops when mucosal fragments become embedded and isolated under the mucosa. It is a preventable complication of SH surgery by ensuring correct purse string placement prior to stapled haemorrhoid excision.
Topics: Adult; Aged; Hemorrhoids; Humans; Male; Middle Aged; Mucocele; Postoperative Complications; Rectum; Retrospective Studies; Surgical Stapling; Treatment Outcome; Young Adult
PubMed: 35915446
DOI: 10.1186/s12893-022-01744-3 -
Current Opinion in Pediatrics Aug 2000The field of pediatric dermatology continues to be enriched by the insights offered through molecular genetics. For some genetic skin disorders, including... (Review)
Review
The field of pediatric dermatology continues to be enriched by the insights offered through molecular genetics. For some genetic skin disorders, including neurofibromatosis, tuberous sclerosis complex, and several forms of epidermolysis bullosa, genetic research has resulted in an evolving understanding of the relationship between genotype and phenotype, with the ability to predict some of the features of these disorders on the basis of the genetic defect. However, widespread use of molecular genetics for diagnostic testing of these disorders has not been possible because of genetic heterogeneity, limited availability, and reduced sensitivity. The appropriate use of genetic services is emphasized in this, the molecular era.
Topics: Child; DNA Fragmentation; Dermatology; Epidermolysis Bullosa; Hamartoma Syndrome, Multiple; Humans; Molecular Biology; Mutation; Neoplastic Syndromes, Hereditary; Neurofibromatosis 1; Pediatrics; Polymerase Chain Reaction; RNA, Messenger; Skin Neoplasms; Tuberous Sclerosis
PubMed: 10943815
DOI: 10.1097/00008480-200008000-00012 -
Journal of Oral and Maxillofacial... Apr 2018We hypothesized that fragmentation of the cystic capsule during surgery would influence the recurrence rate of odontogenic keratocysts (OKCs) regardless of the treatment... (Observational Study)
Observational Study
PURPOSE
We hypothesized that fragmentation of the cystic capsule during surgery would influence the recurrence rate of odontogenic keratocysts (OKCs) regardless of the treatment modality chosen.
MATERIALS AND METHODS
We reviewed, in a retrospective study, cases diagnosed as OKCs on histopathologic examination at the oral pathology department between 1991 and 2013. Fragmentation data were obtained from the records of the oral surgical department.
RESULTS
Fragmentation of the capsules of OKCs during surgery did not affect recurrence, irrespective of the chosen treatment modality. The addition of techniques such as cryotherapy lowered the risk of recurrence of OKCs (P = .013) compared with after enucleation alone. Furthermore, patients with associated nevoid basal cell carcinoma syndrome had a greater recurrence rate than that of those with no associated syndrome (P = .033).
CONCLUSIONS
Fragmentation of the cystic capsule does not play an important role in the rate of OKC recurrence. The rate of recurrence can be modified by using additional strategies such as cryotherapy.
Topics: Adolescent; Adult; Aged; Child; Female; Humans; Male; Middle Aged; Odontogenic Cysts; Recurrence; Retrospective Studies; Risk Factors; Young Adult
PubMed: 29100832
DOI: 10.1016/j.joms.2017.09.022