Familial primary calcific band-shaped keratopathy with late onset systemic disease: a case series and review of the literature.

BACKGROUND: Familial calcific band-shaped keratopathy (BSK) is a very rare disease, with no underlying cause. There is no underlying disease in this form of the disease. This article introduces a family with seven children, three of whom were diagnosed with familial primary calcific BSK. One of them developed a systemic disease 38 years after ocular manifestation. CASE PRESENTATION: In this case report, three Iranian siblings from a family with familial calcific band-shaped keratopathy (BSK) are introduced. Systemic and ocular examinations performed on these patients indicated the occurrence of chronic kidney disease in the older child, a 41-year-old woman, 38 years after ocular manifestation. The examinations conducted on the other two siblings revealed no pathological findings. The 41-year-old sister and 37-year-old brother underwent unilateral deep anterior lamellar keratoplasty (DALK), while the 33-year-old sister underwent bilateral superficial keratectomy (SK). CONCLUSION: Considering the late onset of systemic disease in one of the siblings diagnosed with familial calcific band-shaped keratopathy (BSK), it is crucial to emphasize the necessity of long-term follow-up for these patients and their families.

Orbital primary intraosseous hemangioma in a three-month old infant: A case report.

Purpose: To report a 3-month-old boy with rapid progressive orbital intraosseous hemangioma which was treated with excisional biopsy and orbital rim reconstruction. Observation: A 3-month-old boy was referred with the aggressive growth of a mass on the right orbital region. The mass was noted to develop over 4 weeks. On presentation this firm nontender orbital mass measuring 5 × 5cm mimicked a more ominous malignancy. The spiral computed tomography scan showed a destructive mass with protrusion superiorly and inferiorly toward the orbital cavity and anterior cranial fossa. The patient underwent gross tumor resection and reconstruction of the orbital rim. Histology findings revealed an intraosseous hemangioma. There was no evidence of recurrence after 1-year follow-up. Conclusion and Importance: Due to rapid progression, the patient's age, and lesion size, this case is unique. There were additional challenges regarding complete resection, intra-cranial extension, and significant blood loss in an infant. Therefore, in the face of rapidly progressing orbital tumors in infants, despite the very low prevalence of intraosseous hemangioma, this diagnosis should be considered.

Detection of Human Boca Virus in Gastric Adenocarcinoma.

Background: Gastric cancer is one of the most common cancers worldwide. Human bocavirus (HBoV), a recently isolated virus, has been investigated for its role in many respiratory and enteric diseases. Few studies have reported its presence in solid tumors, such as lung and colon cancers. The aim of this study was to detect the presence of the HBoV1 genome in gastric adenocarcinoma, which has not yet been evaluated. Methods: Formalin-fixed paraffin-embedded (FFPE) blocks of 189 gastric tumors and 50 blocks of non-tumor gastric tissue products from elective weight reduction operations were collected. DNA extraction and real-time polymerase chain reaction (PCR) were performed for HBoV1 detection. DNA sequencing was performed using ABI Genetic Analyzer series 3500. Results: The mean age of the patients was 60±13.33 years. Tumors were more common in males than females (2.5/1). HBoV1 PCR was positive in 34 (18%) cases of GC and 10 (20%) cases of chronic gastritis (P>0.05). There was no association between age, sex, stage, and histologic subtype of the tumor and HBoV1 positivity (P>0.05) in tumor samples. The rate of intestinal metaplasia and presence of lymphoid stroma were also not more frequent in HBoV1-positive tumors (P>0.05). Conclusion: The HBoV1 can be detected in a relatively high proportion of Iranian patients with gastric cancer (18%) with no predilection for specific subtypes and no association with the degree of lymphocytic infiltration. HBoV1 can also be observed in approximately 20% of chronic gastritis cases. Further comprehensive studies are needed to elucidate the role of HBoV1 in gastric cancer development.

Unexpected recurrence and rapid progression of lacrimal gland adenoid cystic carcinoma during pregnancy: a case report.

Adenoid cystic carcinoma (ACC) is the most common malignant neoplasm involving the lacrimal glands, with high rates of recurrence and metastasis. During the pregnancy, reports of recurrence of ACC of the salivary glands and trachea have previously been published, but no lacrimal gland ACC recurrence has been reported. We present a 35-year-old woman with lacrimal gland ACC who was initially treated by surgical resection and adjunctive radiotherapy, but her cancer recurred during pregnancy, with rapid progression to cavernous sinuses and brain. Estrogen and progesterone receptors have been detected on lacrimal glands and ACCs of salivary glands. Thus, hormonal changes during pregnancy might contribute to the recurrence of ACC. However, the inherent invasive and recurrent nature of ACC could also account for the regrowth in this patient and further molecular studies can provide more accurate explanations.

Frequency and Underlying Causes of Alloimmunization Against Red Blood Cell Antigens in Patients Referred to the Blood Bank of the Tertiary Referral Hospital of Tehran from 2018 to 2020.

BACKGROUND: Alloimmunization against blood group antigens is an important non-infectious complication of blood transfusion, and early detection of these alloantibodies by antibody screening before transfusion is crucial. Identifying which underlying factors will affect the occurrence of alloimmunization will be necessary to manage this event as accurately as possible. We aimed to assess the prevalence rate and main determinants of RBC alloimmunization among patients referred to a large referral blood bank in Iran. METHODS: This retrospective cross-sectional study was conducted on all patients referred to a blood bank at Imam Khomeini Hospital between October 2018 and September 2020. Information was collected by referring to the archives of the hospital information system as well as the documents recorded at the blood bank ward and reviewed by two pathologists and completed documents. RESULTS: In total, 39270 cases were cross-matched. Accordingly, the frequency of alloimmunization cases was equal to 220 cases, which indicated a prevalence of 0.56%. The most common alloantibodies were anti-K (43.2%, 95% CI: 36.8‒49.5), anti-E (34%, 95% CI: 27.7‒40.5), and anti-C (16.3%, 95% CI: 11.4‒21.4). Among patients with positive alloimmunization, the most common blood groups were blood group B (34.6%), followed by blood group A (34.1%). Most of these patients were Rh-positive (77.3%). In patients with positive alloimmunization, the frequency of hemoglobinopathy was estimated to be 37.7%. Frequent blood transfusions were found in 42.2%, a history of malignancy in 17.3%, graft history in 11.3%, and a history of pregnancy in 35.0%. CONCLUSION: Alloimmunization was more prevalent and more predictable among patients with hemoglobinopathies and those receiving recurrent transfusions. Therefore, a history of repeated blood transfusions should be regarded as a risk factor contributing to alloimmunization.

Isolated lateral rectus muscle large B cell lymphoma: A rare case report and review of the literature.

Purpose: To report a 65-year-old male patient with primary lateral rectus large B cell lymphoma. Observations: The patient had been referred because of progressive proptosis and limitation of ductions, especially abduction (ortho position at primary gaze) and conjunctival injection. Computerized tomography of the orbit and paranasal sinuses depicted a massive lateral rectus muscle enlargement without any other orbital involvement. Lateral orbitotomy and lateral rectus belly incisional biopsy was done, and histopathologic and immunohistochemical staining and systemic evaluations revealed the diagnosis of primary orbital large B-cell lymphoma. Conclusions and importance: This case indicated that, though rare, extraocular muscle enlargement could be the main finding of primary orbital lymphoma. Large B-cell lymphoma could involve only the orbital tissues, although it is more prevalent with systemic involvement.

IgG4-related disease associated with the primary manifestation of recurrent cerebral venous thrombosis: A rare case report.

Nervous system involvement in IgG4-related systemic disease (IgG4-RD) is rarely reported and manifests as hypertrophic pachymeningitis and hypophysitis. In this report, a 33-year-old woman with neurological manifestations was diagnosed with IgG4-RD by biopsy. The patient showed improvement in symptoms after treatment.

Keratin pearl cyst formation after traumatic implantation of an eyelash into the anterior chamber: A case report.

Purpose: We introduce a case with creamy white pearl-like keratin cysts in the anterior chamber after a penetrating injury associated with eyelash implantation. Observations: A 5-year-old girl presented with a history of penetrating corneal injury with a knife ten months ago. An eyelash was removed from the anterior chamber during her previous primary repair. Her parents complained about the presence of a white mass in her repaired eye, which had appeared about nine months after surgery. After the visco-expression of these solid masses, the histopathological evaluation revealed keratinous material surrounded by multinucleated giant cells. Conclusions and importance: In a case of post-traumatic implantation of eyelash into the anterior chamber, despite removing the cilia, cysts may develop, which suggests proliferating epithelial cells embedded within the anterior chamber.

Orbital Dirofilariasis Masquerading As Orbital Rhabdomyosarcoma.

Purpose: To report a 12-year-old patient with a rapid growing orbital mass and imaging findings suggestive of rhabdomyosarcoma that was found to be dirofilariasis after mass resection. Case Report: We describe a 12-year-old patient with a rapid growing orbital mass involving medial part of orbit and medial rectus muscle and imaging findings suggestive of rhabdomyosarcoma. Histopathologic examination showed the mass to be composed of granulomatous inflammation and the thread-like object to be Dirofilaria repens. The patient was well post-operation without morbidity. In this paper, we describe distinct clinical features and imaging findings of this interesting case. Conclusion: Deep orbital lesions due to dirofilariasis, as in our case, is extremely rare. It is important to add dirofilariasis to the differential diagnosis of orbital mass lesions. Attention to the imaging clues, as provided in this report, can be helpful.

Huge Lateral Rectus Solitary Plasmacytoma Causing Shunt Extrusion.

A 54-year-old man with a history of radiotherapy for right maxillary sinus plasmacytoma 3 years previously was referred to an orbital clinic with progressive proptosis in his right eye. His vision had deteriorated after an initial improvement after phacoemulsification 2 years before. He had undergone shunt implantation and later shunt removal following plate extrusion with the diagnosis of neovascular glaucoma following CRVO. His vision remained at no light perception afterwards, despite a controlled IOP with topical medications. In his CT scan, a large orbital mass was seen with lateral rectus involvement. He underwent deep orbitotomy for tumor resection following worsening of symptoms, and his symptoms were improved afterwards. Pathology report was consistent with plasmacytoma with anaplastic features. After tumor resection, he underwent another course of radiotherapy with complete remission of symptoms afterwards.

Dual effects of atorvastatin on angiogenesis pathways in the differentiation of mesenchymal stem cells.

Atorvastatin (ATO) can improve the transplantation efficacy of mesenchymal stem cells (MSCs) after acute myocardial infarction. The present study aimed at ATO effects on the angiogenesis-signaling pathways from MSCs' differentiation to tissue angiogenesis. MSCs were first prepared from BALB/c mouse bone marrow. MTT assay was then done for the biodegradability of MSCs with the extracellular matrix. After that, the differentiation of cells into the bone and fat tissues was confirmed by Alizarin and Oil Red O staining. The extracellular matrix was then combined with the cells to the implant. Animals were intraperitoneally treated with ATO (2 and 40 mg/kg, daily) three days before cell transplantation to one week after. Finally, the assays were carried out by electron microscopy, immunocytochemistry, ELISA, Western blot, and RT-qPCR techniques. A phase-contrast microscope confirmed the morphology of cells. The cell differentiation into bone and fat tissues was confirmed by Alizarin red staining and flow cytometry, and the cell proliferation was confirmed by MTT assay. Unlike ATO 40 mg/kg group, ATO 2 mg/kg was significantly increased the CD31, eNOS, podocalyxin, von Willibrand factor, and alpha-smooth muscle actin proteins levels compared to the control group in vitro experiment. The expression of CD31 and VEGF proteins, as angiogenesis markers, and Ki-67 protein, as a proliferation marker, was significantly higher in a low dose of ATO (2 mg/kg) than that of the control group in vivo experiment. Unlike ATO 40 mg/kg, the expression levels of ERK, AKT, NF-ҝB, Rho, STAT3, Ets-1, HIF-1α, and VEGF proteins and genes were significantly increased in ATO 2 mg/kg compared to the control. A low dose of ATO can be a beneficial tool in the function of MSCs and their differentiation to tissue angiogenesis.

Evaluation of the Relationship Between Expression of Villin and Gelsolin Genes and Axillary Lymph Node Metastasis in Patients with Breast Cancer.

BACKGROUND & OBJECTIVE: Nowadays, actin-binding proteins such as Villin and Gelsolin have been considered to be associated with aggressive tumors. This study mainly aims to determine the relationship between Gelsolin and Villin genes expression and metastasis of axillary lymph nodes in patients with breast cancer. METHODS: The included population consisted of 40 confirmed cases of female breast cancer (including 20 patients with breast cancer along with axillary lymph node metastasis and 20 patients without axillary lymph node metastasis). Expression of Villin and Gelsolin genes was evaluated using Real-time PCR and pre-designed primers. RESULTS: The mean expression level of Villin in groups with and without axillary lymph node metastasis was 3.33±1.35 and 0.87±0.88, respectively (P<0.001). The mean Gelsolin expression levels in both groups (with and without axillary lymph node metastasis) were 4.13±2.40 and 1.00±0.35, respectively (P<0.001). The significant relationships were independent of individuals' age. CONCLUSION: Patients with axillary lymph node metastasis may express significant higher level of Villin and Gelsolin genes.

Cytomegalovirus DNA in non-glioblastoma multiforme brain tumors of infants.

PURPOSE: CMV antigens have been detected in some brain tumors specially glioblastoma multiforme (GBM). As brain tumors in the first years of life are among the most aggressive neoplasms with poor prognosis, novel therapeutic options like targeted therapy against virus antigens are demanded. Infantile central nervous system tumors, other than GBM, have not been so far studied for CMV. To our best knowledge, this is the first study in which the presence of CMV-DNA, as a potential viral target for therapy, in non-GBM infantile brain tumors has been investigated. METHODS: The paraffin blocks of non-GBM brain neoplasms of 36 infants (age < 24 months) who were operated on between 2006 and 2016 were examined for CMV-DNA, using real-time polymerase chain reaction (PCR). Paraffin blocks of CMV infected lung tissue were used as positive control. Extraction and amplification of ß2 microglobulin gene from each tumor tissue were carried as positive internal control. We also assayed 25 paraffin blocks of meningomyelocele for CMV DNA as negative tissue controls. RESULTS: Histopathological diagnoses consisted of 13 glial/neuroglial tumors (36.1%), 8 ependymomas (22.2%), 7 medulloblastomas (19.4%), 3 choroid plexus tumors (8.3%), 2 atypical teratoid rhabdoid tumors (5.6%), 2 embryonal CNS tumors (5.6%), and 1 germ cell tumor (2.8%). We could not detect CMV DNA in all samples examined. CONCLUSION: Although CMV may be associated with GBM, no role could be proposed for this virus in development of non-GBM infantile brain tumors. Further investigations on larger series of brain tumors should be conducted to confirm or rule out our conclusion.

Clinical, Radiological and Histopathological Features of Patients With Lacrimal Gland Enlargement.

BACKGROUND: The purpose of this study was to describe the radiologic and histopathologic features of lacrimal gland in patients presenting with lacrimal gland enlargement. METHODS: We retrospectively retrieved the data of patients with lacrimal gland enlargement in Farabi Eye Hospital between 2012 and 2017. These data included demographics, the patients' facial photographs, orbital CT-scans, and histopathological findings of lacrimal gland biopsies. RESULTS: Forty-seven patients (15 men and 32 women) were enrolled in this study with a median age of 37.9 years (range, 15-79 years). Histopathologic diagnoses were chronic dacryoadenitis in 26 cases (55.32%), IgG4-related disease in 6 patients (12.77%), two cases of acute dacryoadenitis, two cases of non-necrotizing granulomatous inflammation, two cases of Non-Hodgkin's B-cell lymphoma, two cases of adenoid cystic carcinoma and two cases of mixed tumor (4.26% each), as well as one case of conjunctival epithelial cyst, and one case of benign lymphoid tissue and fibrofatty tissue (2.13%). In two samples (4.26%), biopsy revealed normal lacrimal glands. Interestingly, in two cases with relapsing lacrimal gland enlargement, different histopathologic diagnoses were found in biopsies taken from each lacrimal gland at different times. The average size of enlarged lacrimal glands was 19.67 mm × 7.06 mm on axial CT scan and 19.44 mm × 6.20 mm on coronal CT scan. CONCLUSION: Tissue biopsy is needed for diagnosis of lacrimal gland enlargement because it is difficult to distinguish the type of the lacrimal gland pathology based solely on clinical or radiological presentation.

Lineage analysis of human papillomavirus type 18 based on E6 region in cervical samples of Iranian women.

Distinct human papillomavirus (HPV) 18 variants are thought to differ in oncogenic potential and geographic distribution. As such, understanding the regional variants of HPV 18 would be of great importance for evolutionary, epidemiological, and biological analysis. In this regard, the sequence variations of E6 gene were investigated to characterize more common variants of HPV 18 in normal cells, premalignant, and malignant samples collected from the cervix. In total, 99 samples of HPV 18 were analyzed by polymerase chain reaction and sequencing. In overall, lineages A was identified in all study subjects, among which sublineage A4 was dominant although the difference observed was not statistically significant with regard to different stages of disease. Sublineage A4 comprised 90.9% of samples and the remaining were belonged to sublineages A1, A2, A3, and A5 at the frequency of 6.1%, 1%, 1%, and 1%, respectively. In conclusion, our findings clearly highlight the sublineage A4 of HPV 18 as the most dominant variant in Iran.

Phakomatous Choristoma of the Eyelid and Orbit: A Case Report.

Phakomatous choristoma was first described as a distinct pathologic entity by Zimmerman in 1971. Report of only 26 cases of this tumor so far is an indicator of the rarity of phakomatous choristoma. We present a 4-month-old infant with an orbital mass beneath the right lower eyelid. Surgical excision was undertaken and the histopathologic findings of a dense fibrocollagenous stroma containing small to medium size islands and glandular-like structures surrounded by thick basement membrane and filled by amorphous eosinophilic material confirmed the diagnosis. Immunohistochemical study showed positive staining for S-100 and vimentin and negative staining for cytokeratins, glial fibrillary acidic protein, smooth muscle actin, synaptophysin, CD34, melan-A, and epithelial membrane antigen markers. This is the first patient with phakomatous choristoma presented from our country and the 27th reported case worldwide. Phakomatous choristoma is a rare, benign congenital tumor of lenticular anlage, almost always presenting in the medial lower eyelid and anterior orbit. Surgical excision is curative and allows precise diagnosis due to the unique histopathologic and immunostaining characteristics of this choristoma.

Association between Expression of Tissue Inhibitors of Metalloproteinases-1, Matrix Metalloproteinase-2, and Matrix Metalloproteinase-9 Genes and Axillary Lymph Nodes Metastasis in Patients with Breast Cancer.

BACKGROUND: Certain enzymatic biomarkers such as matrix metalloproteinase (MMPs) are instrumental in the breast cancer. Hence, they are viewed as predictive biomarkers in the primary prognosis of this type of cancer. Furthermore, they enjoy a predictive value in the evaluation of the disease, recurrence of tumor, invasion of tumor cells to other areas as well as therapeutic outcomes. The present study aimed to determine the association between the expression of the three tissue inhibitors of metalloproteinases-1 (TIMP1), MMP2, and MMP9 genes and axillary lymph nodes involvement in patients with breast cancer. METHODS: Patients in this study were categorized into two groups, first with axillary lymph nodes involvement (as the case group) and second group without the involvement of axillary lymph nodes (as the control group) referred to Cancer Institute at Imam Khomeini Hospital in Tehran in 2016. The gene expression was assessed using the reverse transcription polymerase-chain reaction technique. RESULTS: There was no significant difference in the mRNA level of MMP2 and MMP9 genes between the cancer tissues with and without axillary lymph node metastasis in comparison with normal samples. However, the mRNA level of TIMP1 gene was considerably higher in the cancer tissue with axillary lymph node metastasis as compared to the samples without metastasis. In other words, the presence of axillary lymph node metastasis induced a 77.8-fold increase in mRNA expression when compared to condition without metastasis. CONCLUSIONS: The expression of TIMP1 gene is strongly associated with axillary lymph node metastasis in breast cancer patients.

Successful Total Resection of an Orbital Epithelioid Hemangioendothelioma with the Aid of Endovascular Embolization.

Hemangioendothelioma is rarely encountered in the orbit. We present a patient with a growing orbital mass for whom surgical excision was planned. Two previous attempts at removing the mass failed due to profuse bleeding. Endovascular embolization was performed before surgery to prevent massive hemorrhage. After embolization, retinal vascular accident (combined central retinal artery and vein occlusion) occurred. However, surgical excision (lateral orbitotomy and transcoronal craniotomy) was successful, and the vision improved postoperatively. Histopathologic examination and immunohistochemistry study confirmed the diagnosis of epithelioid hemangioendothelioma. The combined approach by a team of specialists, including an interventional radiologist performing preoperative embolization of the feeding vessel and joint surgery by a neurosurgeon and oculoplastic surgeon, was the key to the effective treatment of this vascular orbital neoplasm.