Rare Type Research Articles

Circumflex left aortic arch: a new vascular ring anomaly in dogs.

To describe the circumflex left aortic arch as a new form of canine congenital vascular ring anomaly leading to esophageal constriction. 3 large-breed dogs of variable age: a 9-month-old entire male German Shepherd Dog-Rottweiler cross, a 17-week-old entire male German Shepherd Dog, and a 9-year-old neutered female Labrador Retriever, seen between April 2022 and May 2023. Dogs presented for chronic postprandial regurgitation and poor growth. One dog presented for a hard mass on the caudal mandibular region. Computed tomography revealed a normal leftward-oriented cranial half and an abnormal caudal half of the aortic arch crossing toward the right dorsal hemithorax leading to esophageal constriction in all dogs. In addition, 1 dog presented with a right patent ductus arteriosus and 1 with an aberrant right subclavian artery. Circumflex left aortic arch is a newly discovered rare type of congenital vascular ring anomaly in dogs, which presents a similar anatomical derangement to the human form. Clinical signs include postprandial regurgitation and poor growth. Circumflex left aortic arch vascular anomaly cannot be surgically corrected via the left thoracotomy that is commonly used for the more common vascular ring anomalies in dogs. Computed tomography is a useful diagnostic modality for the diagnosis of this condition, detection of concomitant congenital vascular malformations, evaluation of associated pathologies, and surgical planning.

Male Patient having a Spigelian Hernia, Prince Osman Digna Referral Hospital, Port Sudan City, Red Sea State, Sudan; 2024: A Case Report

Background: Spigelian hernia is a rare type of abdominal hernias; it occurs through a defect in Spigelian aponeurosis of transverse abdominis (Spiegel's fascia). Methods: A 65 years old male, presented to our refer clinic at Prince Osman Digna Referral Hospital; Port Sudan City; Red Sea State; Sudan, on July 2024, complaining of lower abdominal swelling for 2 months without features of obstruction or strangulation; following heavy lifting, obvious during standing and walking, disappear when lying down; and was not associated with gastrointestinal track disturbances. Patient had history of recurrent repaired right inguinal hernia, para-umbilical hernia, and transurethral resection prostatectomy for Benign Prostatic Hyperplasia. No family history of similar conditions. Result: Abdominal examination showed: positive visible cough impulse revealed reducible mass at the left lower abdomen, oval in shape about 15*15cm, without features of peritonism. CT abdomen showed: left lower lateral abdominal wall hernia defect lateral to the rectus abdominis muscle measuring (3*3.7 cm) with hernia sac lie between the external and internal oblique muscles containing bowel loops. Patient diagnosed as Spigelian hernia and planned for mesh hernioplasty. Intra-operative findings revealed: the hernia sac passed through the internal oblique and transverse abdominis muscles, it contained sigmoid colon which released smoothly, sac excised, external oblique aponeurosis sutured by nylon 2, prolene mesh fix onlay, no intraoperative complications. Post-operative course was smooth. Conclusion and recommendations: Spigelian hernia has to be suspected among patients having repeated abdominal hernias. Early diagnosis using CT Abdomen and urgent surgical intervention for such cases were highly recommended.

Identification of a Novel RUNX1::STX2 Fusion in Mixed-Phenotype Acute Leukemia (MPAL) With BCR::ABL1.

Mixed phenotype acute leukemia (MPAL) is a rare type of acute leukemia (AL), MPAL with BCR::ABL1 fusion is the main subtype of MPAL, mainly affecting adult males. It is an acute leukemia with unique clinical and biological characteristics that involve both the myeloid and lymphatic systems. Gene fusion plays a crucial role in the pathogenesis, diagnosis, prognosis assessment, and treatment of leukemia. We present the first discovery of a novel fusion of RUNX1::STX2 in this subtype, which is co-expressed with BCR::ABL1 fusion. RUNX1 is a crucial transcription factor for hematopoietic differentiation, frequently found to be abnormal in AML, while STX2 may play a role in cancer progression. The RUNX1::STX2 fusion protein may act as the primary negative regulator of wild-type RUNX1, influencing normal cell differentiation and proliferation, consequently elevating the risk of leukemia. The gene fusion status of this patient is unique and complex, requiring further exploration to understand its functional significance in leukemia progression and treatment response.

Solitary Fibrous Tumor of the Larynx: A Case Report and Brief Literature Review.

Solitary fibrous tumors (SFTs) are a rare type of soft tissue tumor first identified as arising from pleura and usually arising in the thoracic cavity. The incidence of SFTs arising in the head and neck region is much lower, accounting for about 7% of SFT cases. Involvement of the larynx specifically is exceedingly rare and can have inconspicuous presentations, making them challenging to diagnose. This case report represents a patient with a history of urothelial cancer and obstructive sleep apnea who was ultimately found to have a fibrous tumor of the larynx, which was confirmed by histopathology and immunohistochemistry and treated with transoral microsurgical resection. This case report aims to shed light on an infrequently documented location of a solitary laryngeal fibrous tumor and a unique clinical presentation of this rare pathology and its successful surgical management.

Left Amyand’s Hernia in A 1-Year-Old Male Infant: Report of a Rare Case in Common Presentation

Abstract Amyand’s hernia is a rare type of hernia with the appendix and cecum trapped in a hernial sac. A one-year-old male infant was referred with irreducible left inguinal hernia for about 1 week. No signs of intestinal obstruction were presented, and pain was tolerated. A herniotomy was performed on the patient. Intraoperatively, the appendix and cecum were found in the left hernial sac, which this rare presentation named left Amyand’s hernia. Cecum and appendix were considered normal. No perforation and significant inflammation were found; hence, no appendectomy was performed. Left Amyand’s hernia is a very rare case, mostly in pediatric surgery, in which the current decision of diagnosis-making can only be made intraoperatively.

Small Cell Neuroendocrine Carcinoma of the Nasopharynx

Background: Nasopharyngeal malignant tumors were relatively rare head and neck tumors with a low global incidence. There were various pathologic types of nasopharyngeal malignant tumors, and small cell neuroendocrine carcinoma (SCNEC) was a highly malignant subtype with rapid growth and early metastasis. SCNEC was rare in the nasopharynx, and its clinical presentation and treatment strategy were different from other types of nasopharyngeal malignancies, posing a challenge to clinicians. Therefore, a comprehensive analysis of its diagnosis and treatment was essential. Case presentations: In February 2024, a 32-year-old male presented with nasal congestion, right ear stuffiness, right ear hearing loss, and right ear pain. Electron nasopharyngoscopy and nasopharyngeal magnetic resonance imaging (MRI) showed a large tumor in the nasopharynx. Pathologic examination confirmed the pathologic type as SCNEC. The patient was finally diagnosed with SCNEC. After chemotherapy, immunotherapy, and radiotherapy, the tumor size was significantly reduced, and the clinical symptoms were significantly improved. Conclusion: This case provided insights into the diagnosis and treatment of nasopharyngeal malignancies, particularly for a rare pathologic type (SCNEC), potentially enhancing the overall understanding of the disease.

Case Report: A small bowel occlusion revealed by a strangulated transomental hernia

Introduction Transomental hernias are a rare type of internal hernia, accounting for less than 1% of all internal hernias. They occur when abdominal contents protrude through a defect in the omentum, leading to bowel obstruction and potential strangulation. We report the case of a young male admitted for the management of an acute bowel obstruction. Case report A 38-year-old male patient with no significant medical or surgical history presented with a proximal bowel obstruction syndrome. Upon physical examination, he exhibited mild abdominal distension, tenderness in the right iliac fossa, and tympanism. Laboratory tests indicated elevated inflammatory markers. An emergency computed tomography (CT) scan suggested the presence of a congenital band or an internal hernia. A laparoscopic procedure was performed, which identified a transomental hernia with a segment of the ileum protruding through an omental defect adjacent to the transverse colon. The herniated loop of small intestine was found to be compromised and gangrenous. Due to the severity of the condition, a midline incision was made to convert the procedure, allowing for resection of the affected segment of the small intestine while preserving 2.5 meters of viable bowel distal to the duodenojejunal junction. The remaining small intestine was exteriorized as a double-barrel ileostomy, and the transomental defect was subsequently repaired. The postoperative recovery was uneventful. Conclusion Although internal hernias account for a relatively small percentage of cases, they are frequently overlooked as a cause of bowel obstruction. Diagnosis this condition is challenging, both clinically and radiologically. Facilitating prompt surgical intervention to mitigate high mortality is essential.

Paul Christian P. Pacquing, MD (1986-2024)

It is an honor to write this tribute to Dr. Paul Christian Pacquing, though I never imagined doing this for him. Given this opportunity to pay my last respects to a dear friend and colleague, I will try my best to recount and share the last 11 years of his life with you. Pax played a myriad of roles. He was a husband, a father, a son, a friend and a physician. Whichever role he played; he was exemplary at it. I first met Pax during pre-residency for the ORL-HNS program at the East Avenue Medical Center. He was cordial to everyone, even to his fellow pre residents, despite us being competitors. During residency, he stood out as Mr. Congeniality. He had an immensely infectious smile, and was literally friends with everyone in the hospital. He always had an amicable demeanor towards his patients. He would call patients like, "Mommy dear! Kumusta ka na?" Sometimes, proceeding to innocently and warmly hug our patients. He had a knack for handling conflicts and toxicities with his laid back nature. He would utter: "Chill. Relax lang tayo pare." Surprisingly, this worked and we would surmount our challenges unscathed most of the time. We had our sleep medicine and surgery fellowship training together in the same year at Chang Gung Medical Center. He excelled even in a foreign land and training institution. As a Fellow, he was sharp, studious and valued the time and experience there. Our mentors acknowledged his brilliance and he finished training with much approval. Back home, he established his practice in Isabela, Cagayan and Manila. However, due to the limited mobility brought about by the pandemic, he opted to stay in his hometown of Isabela and share his medical expertise there. As a physician, he was charitable and compassionate. Sharing a clinic together, our secretary would frequently tell me the incidents where Pax would treat financially-constrained patients for free. He would incessantly discuss his dream of establishing and providing sleep disorder services in the North to cater to his fellow Ilocanos. As a family man, he was affectionate, responsible and thoughtful. He loved his wife and was committed, despite numerous challenges. Our chats never ended without him talking about his daughter, the time they spent together and the dreams he had for her. Even during his last days, he only thought of his daughter and that he was determined to fight on so that he could see her grow up. In March 2023, after attending our annual PSSM convention, he was diagnosed with a rare type of B- lymphoblastic leukemia. This was extremely difficult and sad news to process by everyone close to Pax. How could a fit, sporty and healthy young man have leukemia? He underwent numerous grueling sessions of chemotherapy, but despite this, in a typical Pax manner of managing things, he remained calm, positive and relaxed. Never was there a negative word during the entirety of his treatment. Even in pictures where he was bedridden and attached to IV lines, he was still smiling. On the morning of September 4, 2024, the day prior to the first phase of his bone marrow transplant treatment, he asked for prayers and told me the next time I see him will be during recovery. Four days after, I received news from his wife that he was in critical condition with signs of multiple organ failure. Even prior to intubation, he was seen smiling and waving to his wife and brother and gesturing a thumbs up. Only a brave man would be capable of doing this while feeling the inevitable end nearing. Pax joined our Creator the following day. Paul Christian’s early passing remains a mystery and nagging question to family and friends. Why was this energetic, young and vibrant soul extinguished so early? Perhaps God has a plan. As mere humans, maybe we are not supposed to know the answers to the whys and whens of life and existence. To Pax: "Paalam, kapatid." We will miss you.I know you are smiling down at us from the heavens.

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).

A rare type of autosomal recessive skeletal disorder, known as microcephalic osteodysplastic primordial dwarfism (MOPD) type II, causes a wide range of clinical abnormalities, including skeletal dysplasia, microcephaly, abnormal skin pigmentation, insulin resistance, typical facial features, and severe tooth deformities. Given the diverse manifestations of MOPD disorders and the overlapping clinical characteristics among primordial dwarfism (PD) subtypes, mutation analysis is crucial for accurate diagnosis and confirmation of MOPD II. In this study, whole-exome sequencing (WES) and GAP-PCR were employed to identify relevant genetic variants in three patients suspected of having MOPD.The clinical characteristics of three Iranian patients exhibiting hallmark features of MOPD were assessed. All patients were the offspring of consanguineous marriages and were referred from various provinces of Iran. WES was performed, and the identified variants were prioritized according to the standard filtration criteria. In the next step, Sanger sequencing was conducted to validate the candidate variants identified through WES in patients and their parents. Finally, GAP-PCR was implemented to resolve conflicting results between WES and Sanger sequencing for one of the patients.Analysis of three distinct cases revealed a novel homozygous copy number variation (CNV) in Case 3, consisting of a 490bp deletion harboring exon 19 in the PCNT gene. Additionally, a nonsense homozygous variant in the PCNT gene (c.2812C > T, p.Gln 938*) was found in Cases 1 and 2. This pathogenic variant has been previously documented in the literature.Reporting a novel deletion in the PCNT gene improves genetic testing services, including PND and pre-implantation genetic diagnosis (PGD) for MOPD II.

Eruption style and dynamics of the ~ 87 ka Baricha peralkaline rhyolite eruption in Ethiopia

Peralkaline rhyolites are a rare magma type, typically associated with continental rift settings, and characterised by excess alkalis relative to alumina and a moderate-low viscosity compared to calc-alkaline equivalents. Despite their prevalence in extensional rift settings, such as the Main Ethiopian Rift, eruption dynamics of peralkaline magmas are poorly understood and have never been directly observed. To address the knowledge gap, this study investigates the style and dynamics of the ~ 87 ka explosive eruption at Baricha volcano as a case study. This eruption deposited widespread pumice lapilli fall and pyroclastic density currents, which provide valuable information on pre- and syn-eruptive magmatic processes. By examining the physical and textural features of the eruption products at different stratigraphic levels, we reconstruct eruption dynamics over time. Our analysis reveals that the eruption had three distinct phases, each characterised by different types of tephra fall deposits and associated with different plume and vent conditions. Specifically, deposits of phases 1 and 3 were characterised by massive and well-sorted tephra falls indicative of sustained plume behaviour, while phase 2 deposits were bedded, lithic-rich (i.e. non-juvenile fragments) tephra falls, and pyroclastic density current deposit associated with an unsteady plume and vent-widening phase. The pumice (8–16 mm size fraction) from this eruption is microlite-free, with a bulk density of 400–700 kg m−3 and > 60% total vesicularity. The vesicle size distribution is polymodal, with the most frequent size ranging from 0.001 to 2.4 mm and an estimated vesicle number density of 0.07*107 to 1.6*107 mm−3. The textural observations suggest rapid nucleation occurred during the late phases of magma ascent. Calculated decompression rates of the ascending magma were 0.07–5.6 MPa/s and show a variation between the eruption phases. We conclude that the shift in eruption dynamics alternating between steady to unsteady plume behaviour during the eruption was likely driven by changes in conduit geometry, lithic abundance of the eruptive mixture, decompression rate, and fresh magma injection.

Mineral composition and antioxidant activity of partially digested coffee “Kopi Luwak”

Background: Kopi Luwak is a rare type of coffee, that is partially digested in the Asian palm civet’s digestive tract before roasting. It therefore possesses a distinctive flavor and unique properties, shaped by the digestive enzymes in the civet's intestine. Objective: In this study, the differences of mineral composition, antioxidant potency and total polyphenol amount between commercially available Kopi Luwak and regular coffees (without digestive fermentation) were evaluated. Methods: Twenty-one regular type of coffee bean and 17 of Kopi Luwak bean were purchased from local markets or Kopi Luwak production company in Indonesia. The samples were then analyzed for the levels of 23 minerals (Al, As, Ba, Bi, Ca, Cd, Co, Cr, Cs, Cu, Fe, Li, Mg, Mn, Mo, Ni, Pb, Rb, Se, Sn, Sr, V and Zn) using ICP-MS system. The total polyphenol amount and antioxidant activity were evaluated using Folin-Ciocalteu assay and DPPH (1,1-Diphenyl-2-picrylhydrazyl) radical scavenging assay, respectively. Results: Of these 23 minerals, the concentrations of Mn and Ba were significantly lower in Kopi Luwak than in regular coffee. Otherwise, the concentrations of Cu and Rb in Kopi Luwak were significantly higher than those in regular coffee. The IC50 value on DPPH radical scavenging assay of Kopi Luwak (61.4±2.8 mg/dL) was significantly lower than that of regular coffee (93.6±1.9 mg/dL). Total polyphenol amount for Kopi Luwak was significantly higher than regular coffee. The correlation factor between these factors was r = -0.5910 and p < 0.001. Conclusion: Kopi Luwak had lower concentrations of Mn and Ba, but higher levels of Cu and Rb compared to regular coffee. Additionally, Kopi Luwak exerted strong antioxidant activity and contained higher polyphenol amounts than regular coffee. Thus, our findings imply that Kopi Luwak is an important candidate for functional foods. Keywords: antioxidant potency, ICP-MS, Kopi Luwak, mineral composition, polyphenols

Subacute onset rhino-orbital mucormycosis caused by Cunninghamella in a Chinese leukemia patient: A case report and literature review

Purpose We herein report a case of subacute-onset rhino-orbital mucormycosis (ROM) in an acute leukemia patent caused by the rare but most lethal pathogenic fungus - Cunninghamella. To the best of our knowledge, this is the first case of ROM caused by Cunninghamella reported in China. Case description A 50-year-old Chinese female with acute leukemia (M2 type) who, following the completion of two cycles of chemotherapy, began to exhibit naso-ocular symptoms. The patient was initially diagnosed with extramedullary leukemia. As the disease progressed, the patient began to develop specific black crust-like necrosis of the right eyelids. Following multidisciplinary treatment (MDT) consultation and tissue biopsy, the patient was finally diagnosed with a rare type of ROM caused by Cunninghamella infection. Although the mortality associated with Cunninghamella infection was significantly greater than that associated with infections caused by other Mucorales, the infection was eventually controlled through the adjustment of the antifungal drug regimen and timely surgical intervention. Conclusions ROM infection with Cunninghamella is an extremely rare and fatal fungal infection, and early recognition and diagnosis of the disease is critical to the prognosis. The subacute nature of this case may have been a positive factor in the patient's preservation of life.

Vieussens’ arterial ring to main pulmonary artery fistula in patient with chest pain

We report a rare case of Vieussens’ arterial ring to main pulmonary artery fistula in patient with chest pain who underwent computed tomography (CT) coronary angiography. This case highlights a rare type of coronary-pulmonary artery fistula and role of CT angiography in detecting such anomalies which carry important hemodynamic implications. It is imperative to treat such complicated cardiovascular anomalies to avoid possible long-term clinical consequences.

Giant scalp dermatofibrosarcoma protuberans at mid-occipital scalp: A rare case report

Background: Dermatofibrosarcoma protuberans (DFSP) is a rare type of skin cancer that arises in the deeper layers of the skin, most commonly on the trunk and limbs. The presentation of DFSP on the scalp is worth documentation due to its extremely rare occurrence in the literature. Case Description: We describe a case of a 41-year-old female presented with a lump on the back of the head with gradual enlargement. It was solitary with a size 19 × 12 × 10 cm with purulent discharge and intermittent pain. A computed tomography-scan showed an isodense mass at mid occipital without intracranial involvement. Tumor extirpation and the free flap were performed collaborated with plastic surgery. The patient was discharged unremarkably on the 7th postoperative day without any neurological deficits. Conclusion: Our case is distinct because, after 24 months without any adjuvant therapy and without any recurrence, the patient is still doing well. This is a very rare clinical entity.

Rare case of resistant Achromobacter xylosoxidans-associated meningitis due to intrathecal catheter

Background: Achromobacter xylosoxidans (AX) is an aerobic Gram-negative opportunistic bacteria known to inhabit various environments and is most commonly associated with nosocomial infections in immune-compromised patients. Although rare, AX can cause a variety of neurological infections, such as meningitis, ventriculitis, and osteomyelitis. Intravascular catheters, intrathecal pumps, and contaminated surgical instruments are potential vectors for such patients. Case Description: Here, we present a unique case of multidrug-resistant AX-positive meningitis secondary to infection of a nonfunctional intrathecal narcotic pump. The patient has a complex past medical history leading up to infection, and care was significantly compromised by homelessness and inflammatory bowel disease (IBD). Treatment included catheter removal and antibiotics. Conclusion: Patients who suffer from homelessness or IBD show a possible increased risk of this infection. This case emphasizes the need for increased care regarding these patients, along with describing the complications and timeline when treating this rare type of meningitis.

BIOS-02. DIFFERENT GROWTH PATTERN OF VESTIBULAR SCHWANNOMAS IN NEUROFIBROMATOSIS TYPE 2 PATIENTS ACCORDING TO AGE

Abstract The natural growth pattern of vestibular schwannoma (VS) associated with the rare disease neurofibromatosis type 2 (NF2) has not been sufficiently elucidated, and the rationale for proactive treatment for VS in NF2 is not firmly established. This study aimed to uncover the growth pattern of VS associated with NF2 and identify risk factors for rapid growth. A total of 68 VSs from 41 NF2 patients who were diagnosed in Seoul National University Bundang Hospital from July 2006 to July 2023 were retrospectively reviewed. NF2 was clinically diagnosed according to the Manchester criteria. The mean age was 34±16 years (mean ± standard deviation) at diagnosis. The initial tumor volume was a median of 0.263 cm³ (interquartile range [IQR], 0.053-0.754 cm³), and 51 VSs exhibited serviceable hearing classified as Gardner-Robertson grade 1 or 2. Patients were followed for a median of 45 months (IQR, 30-80 months), during which the median volume increased by 0.145 cm³ (IQR, 0.020-0.783 cm³), representing an annual growth rate of 0.044 cm³/yr (IQR, 0.003-0.202 cm³) or 12.4%/yr (IQR, 2.2-27.5%). Patients younger than 25 years (15 patients with 28 VSs) had significantly smaller initial tumor sizes (0.170 cm³ [IQR, 0.031-0.339 cm³] vs. 0.510 cm³ [0.099-1.399 cm³]) but faster tumor growth rates (annual growth rate; 27.3%/yr [IQR, 11.3-81.4%/yr] vs. 4.7%/yr [IQR, 0.0-16.1%/yr]) compared to those 25 years or older (26 patients with 40 VSs). Among the 51 VSs with serviceable hearing at diagnosis, 40 VSs were followed up for more than 12 months. Among them, 13 (32.5%) experienced unserviceable hearing deterioration at a median of 58 months. The risk of hearing loss significantly increased with faster tumor growth rates. The growth rate of NF2-related VS was higher in patients under the age of 25, which may be helpful in determining indications for proactive treatments like radiosurgery for NF2-related VS.

The Expression of HPV-16 E5 Oncoprotein Impacts the Transcript Profiles of FGFR2 and EMT-Related Genes in Preneoplastic Anal Epithelium Lesions.

Anal Squamous Cell Carcinoma (SCCA) is a rare Human Papillomavirus type 16 (HPV16)-associated carcinoma whose pathogenesis is still poorly understood. Recent studies based on biopsy and Next Generation Sequencing (NGS) approaches have linked the viral episomal status to aggressive SCCA phenotypes, suggesting a potential role of the 16E5 oncoprotein in tumor development. Our previous findings indicated that 16E5 induces Fibroblast Growth Factor Receptor 2 (FGFR2) isoform switching, aberrant mesenchymal FGFR2c expression, Epithelial Mesenchymal Transition (EMT), and cell invasion in various in vitro human keratinocyte models, as well as in the in vivo context of cervical Low-grade Squamous Intraepithelial Lesions (LSILs). To further explore the role of 16E5 in epithelial carcinogenesis, this study aims to investigate the molecular profile in HPV-related anal lesions. The results showed a significant positive correlation between 16E5 and FGFR2c, as well as 16E5 or FGFR2c and key EMT-related transcription factors, particularly in the group of HPV16 positive anal samples not containing without high grade lesions. Additionally, by coupling the molecular analysis with an interactome investigation, we hypothesized a potential functional interplay between the Ca2+ channel Transient Receptor Potential Ankyrin 1 (TRPA1) and FGFR2c, mediated by 16E5 during the establishment of the oncogenic signaling. These findings will help to elucidate the actual relevance of 16E5 in the early progression of anal lesions and contribute to determine its potential as target for future preventive approaches for HPV16-positive SCCA.

PATH-42. METASTATIC ADENOID CYSTIC CARCINOMA OF BREAST WITH BRAIN METASTASES AND LEPTOMENINGEAL DISEASE

Abstract INTRODUCTION Adenoid cystic carcinoma (ACC) of the breast rarely metastasizes to the brain and leptomeninges. ACC is a rare type of breast cancer, accounting for less than 0.1% of cases. It is usually triple negative, but has a good prognosis when it is confined to the breast. Lymph node involvement is uncommon, occurring in less than 2% of cases, and distant metastases to the brain are extremely rare. Leptomeningeal disease has not been reported yet. Case: In this case, we describe a 57-year-old woman diagnosed with triple-negative ACC of the right breast, which had spread to the axillary lymph nodes and distant metastases to the lung. The diagnosis was confirmed by biopsies of both metastatic sites. The patient received vinorelbine and cisplatin treatment for 11 cycles followed by right needle localized lumpectomy. While awaiting for the next steps in treatment she was admitted to the hospital for altered mental status, saddle anesthesia, and urinary incontinence. Neuraxis MRI revealed numerous hemorrhagic and non-hemorrhagic brain metastasis with diffuse leptomeningeal disease. Cerebrospinal fluid analysis confirmed leptomeningeal disease with positive cytology for atypical epithelioid malignant cells. The patient underwent whole brain radiation and focal radiation treatment to specific areas of leptomeningeal disease. Although she initially improved after the first month of radiation, her condition deteriorated rapidly, preventing the initiation of the next line of treatment with high-dose methotrexate or capecitabine. DISCUSSION Adenoid cystic carcinoma of the breast is exceedingly rare however with a very good overall prognosis. It is uncommon for ACC to spread to regional lymph nodes, and even rarer for distant metastasis. Brain metastasis is also infrequently reported. There are no documented cases of metastatic ACC with leptomeningeal disease, so there is no consensus on the best course of treatment.

The relics of Jesus and Eucharistic miracles: scientific analysis of shared AB blood type.

Various relics ascribed to have been in physical contact with the historical Jesus of Nazareth have been evaluated for the presence of blood, including the Tunic of Argenteuil, the Sudarium of Oviedo, and most famously, the Shroud of Turin. Interestingly, the blood type on all three textiles was found to be AB by serological testing; a similar result was observed for various modern Eucharistic miracles, in which consecrated hosts are reported to change into human cardiac tissue and blood. As AB is a relatively rare blood type, these collective observations have been used in numerous contemporary media outlets to support the idea that all such objects share a common origin. Here, the scientific validity of mutual blood type expression is evaluated. As discussed, AB antigens are not unique to human red blood cells but are also expressed in bacteria, providing a practical connection between such varied objects. Moreover, this article clarifies that the communal presence of specific and unique polymorphic markers would be required to validate that bloodstains associated with such items truly originate from a single source.

Rare atypical type a thymoma: a case report and literature review

BackgroundAn atypical type A thymoma variant was recently added to the World Health Organization classification of type A thymoma in 2015. This novel form of type A thymoma presents with hypercellularity, increased mitotic activity, and necrosis. In particular, necrosis seems to be related to postoperative recurrence and metastasis, but the clinical significance of these changes still needs to be studied.Case presentationA 76-year-old man underwent thoracoscopic surgery for tumour resection due to an anterior mediastinal mass. Pathological examination revealed that the tumour invaded the surrounding thymic tissue. Cells were arranged in nest-like and whirl-like patterns, accompanied by prominent comedo-like necrosis, increased cell density, mild atypia, and a mitotic count of 4–6 per 10 high-power fields. Immunohistochemistry revealed positive expression of cytokeratin 19 and P63 in the tumour cells. Lymphocytes in the background were positive for CD3 and CD5, did not express terminal deoxynucleotide transferase, CD20, or CD117, and had an MIB-1 labelling index(LI) value of 15%. On the basis of these findings, the tumour was finally diagnosed as an atypical type A thymoma variant.ConclusionsWe report a case of atypical type A thymoma and review the literature to enhance our understanding of and provide accumulated pathological data on this rare disease.