TitleFetal growth restriction and left ventricular cardiomyopathy associated with a derivative chromosome 15: 46,XX,der(15)t(7;15)(q33;q26.2)

Title pageA Novel Missense Mutation of COL7A1 Gene in Dominant Dystrophic Epidermolysis Bullosa, PruriginosaZhixin Zheng1,2, Jiaojiao Zhong1,2, Wen Dong1,2, Huifei Yang3, Ming Zeng1,2, IDDepartment of Dermatology, The Sixth Affiliated Hospital, Sun Yat-sen University, No.26, Road yuancun-er-heng, Guangzhou 510655, ChinaBiomedical Innovation Center, The Sixth Affiliated Hospital, Sun Yat-sen University, No.7, Road Xingdao-huan-bei, Guangzhou 510000, ChinaDepartment of Pathology, Fuda Cancer Hospital，No. 2, Road tangde-xi, Guangzhou, 510000, ChinaCorresponding Author: Ming Zeng, Department of Dermatology, The Sixth Affiliated Hospital, Sun Yat-sen University, No.26, Road yuancun-er-heng, Guangzhou, 510655.Email: zengm55@mail.sysu.edu.cnTel: 86-20-38254127

IntroductionLynch syndrome (LS), which was known as hereditary non‑polyposis colorectal cancer (HNPCC), is present in 1 in 279 people around the world. It is the most common hereditary cause of colorectal cancer (CRC) and cause about 2–4% of all CRC cases (1). It results from a germline pathogenic (P) or likely pathogenic (LP) variant in one of the DNA mismatch repair (MMR) genes, MLH1, MSH2, MSH6, or PMS2, or in the EPCAM gene. these deletions cause MSH2 inactivation (2, 3). Data from hereditary cancer registries show that specific MMR gene variants are associated with different cancer risks. The most malignancies that are associated to LS are cancers of the colon, rectum, endometrium, ovary, stomach, renal pelvis, ureter, bladder, small intestine, pancreas, skin (particularly sebaceous neoplasms), biliary tract, and brain (4). Besides, multiple reports from hereditary cancer registries and institutional series describe rare or atypical tumor types that occurre in the context of LS (5).LS‑associated malignancies are characterized by deficient DNA mismatch repair (dMMR), which results in a high level of microsatellite instability (MSI‑H) and an elevated tumor mutational burden (TMB). Molecular assays assessing MSI status and MMR protein expression are routinely used to detect MSI‑H/dMMR phenotypes (6). MSI‑H tumors, in the context of LS or sporadically, show distinct biological and clinical behavior compared with microsatellite‑stable (MSS) tumors. it makes them appropriate candidates for immunotherapy and other emerging targeted strategies (7). In contrast to LS‑related colorectal cancers, sporadic MSI‑H CRCs are typically associated with somatic BRAF V600E mutations or MLH1 promoter hypermethylation (8). These molecular features are clinically useful for distinguishing germline‑associated dMMR from sporadic dMMR colorectal cancers (8).Pancreatic neuroendocrine tumors (P‑NETs) are a subtype of gastroenteropancreatic neuroendocrine neoplasms (GEP‑NENs) that arise from the hormone‑secreting cells of the pancreatic neuroendocrine system and represent the second most common form of pancreatic neoplasm (9). Although most P‑NETs occur sporadically, a subset develops in association with hereditary cancer predisposition syndromes such as multiple endocrine neoplasia type 1 (MEN1), von Hippel–Lindau (VHL) syndrome, tuberous sclerosis complex (TSC), and neurofibromatosis type 1 (NF1) (10). Neuroendocrine tumors are uncommon in Lynch syndrome, and the combination of Lynch syndrome with a pancreatic neuroendocrine tumor (P-NET) has been only sporadically reported (9, 11); however, a definitive causal association is still vague. We report a case of a young woman with MLH1‑related LS who presented with primary colon adenocarcinoma and a non‑functional metastatic P‑NET involving the liver.

A document by Setareh Tavakkolijebelli. Click on the document to view its contents.

A document by Zhiyu Liu. Click on the document to view its contents.

INTRODUCTIONFemale genital Tuberculosis (FG-TB) is an important but often overlooked cause of infertility.(1) However, there is paucity of epidemiological and clinical data on FG-TB.(2) Thus, FG-TB prevalence remains difficult to estimate because patients remain asymptomatic and undiagnosed.(3) Reports in developed countries like USA, Australia and Western European countries suggested an incidence of less than 1% in developed countries but up to 15 – 19% in developing countries, specifically 17% and 6 - 21% in Nigeria and South Africa respectively.(4) FG-TB is usually spread hematogenously from the lungs or through lymphatic circulation or directly through contiguous organs like the bowels to the genital regions of females.(5) Diagnosis remains challenging due to the paucibacillary nature of genital specimens and the limited sensitivity of microscopy and culture.(6) As a result, hysteroscopy and histopathology are crucial instruments for recognizing necrotizing granulomatous inflammation and detecting distinctive intrauterine alterations.(7) In Ghana, reports of FG-TB remain scarce, and documentation of hysteroscopic diagnosis is virtually absent. This case report highlights the need for increased clinical suspicion in TB-endemic areas by providing what appears to be the first Ghanaian instance of hysteroscopically suspected and histologically confirmed FG-TB in a woman presenting with infertility and amenorrhoea.

A document by Nadia Bhuyain. Click on the document to view its contents.

Pigmented Poroid Hidradenoma: a case reportAbstract : Poroid hidradenoma (PH) is an infrequently encountered benign adnexal neoplasm exhibiting eccrine differentiation. Histopathologically, PH displays a distinctive combination of hidradenoma-like architectural organization characterized by a purely intradermal localization with both solid and cystic components, and cytological attributes of poroid neoplasms, consisting predominantly of poroid and cuticular cells(1). In the present report, we document a case of pigmented PH arising on the thigh of a 44-year-old male patient and discuss its characteristics and clinical course.Introduction : Cutaneous adnexal tumors represent benign or malignant proliferations arising from one of the four primary skin appendages: hair follicles, sebaceous glands, apocrine glands, and eccrine glands(1) (2). Their classification is based on the morphological differentiation toward one or more of these adnexal structures. Sweat gland tumors encompassing both eccrine and apocrine lineages constitute a relatively uncommon subset of benign adnexal neoplasms, exhibiting a broad histopathological spectrum(1). Poroid hidradenoma (PH) is an uncommon benign cutaneous adnexal tumor and the most recently recognized entity within the poroma group. It originates from eccrine sweat ducts and is characterized histologically by a combination of solid and cystic components entirely confined to the dermis, without epidermal connection(1). First described in 1990, this tumor was subsequently classified among four recognized variants of poroid neoplasms based on the localization of neoplastic cells: poroid hidradenoma, eccrine poroma, dermal duct tumor, and hidroacanthoma simplex. Given their eccrine gland origin, all of these variants are localized entirely within the dermis(3). In the present report, we document a case of pigmented PH arising on the thigh of a 44-year-old male patient and discuss its characteristics and clinical course.Case Report : A 44-year-old male patient with no significant past medical, surgical, or family history presented with a painless mass on the anterior aspect of the left thigh growing for 2 years. He reported no symptoms such as itching or burning at the site of the lesion and denied any associated pain or weight loss. Examination showed a single exophytic tumor, black and pink in color, 4 × 3 cm in size, well defined, with a multilobulated granulomatous appearance. (Figure 1).Given the pigmented aspect of the lesion, a surgical excisional biopsy with a safety margin was performed to rule out the diagnosis of melanoma, followed by primary intention closure of the wound. Histopathology showed an intradermal epithelial neoplasm with focal epidermal connection, exhibiting solid and cystic components, and consisting of small, uniform basaloid cells. Within it, there were duct-like structures containing dendritic melanocytes with melanin deposits (Figure 2). The lesion appeared within 1 mm of the surgical resection margin. The diagnosis of pigmented PH was confirmed. The patient’s surgical site showed complete healing on routine follow-up examinations, without evidence of tumor recurrence.

IntroductionCystic echinococcosis (CE) is a parasitic infection caused by the larval stage of Echinococcus granulosus . Despite being widely present in many parts of the world, it often remains overlooked as a public health concern. More than a million people are affected globally at any given time, and some regions including South America, Central Asia, and China report annual incidence rates that surpass 50 cases per 100,000 individuals [6,7]. Infection occurs when humans ingest eggs passed in the feces of infected canids. After entering the intestine, the oncospheres cross the gut lining and are carried through the portal circulation, where they most commonly settle in the liver (around 70% of cases) or the lungs (approximately 20%) [6]. In fewer than 10% of patients, cysts appear in other abdominal organs such as the spleen, kidneys, or peritoneum [6].Within Pakistan, the true burden of CE is difficult to determine, mainly because surveillance is limited, particularly in rural communities. Between 2000 and 2020, around 1,700 laboratory-confirmed cases were recorded, though the actual number is believed to be considerably higher [7]. Hydatid cysts involving the colon are exceptionally uncommon, with fewer than 30 cases reported in contemporary literature [2]. The colon’s constant motion, acidity, and protective mucosal environment make cyst implantation unlikely. When colonic cysts do form, they often cause vague or non-specific symptoms such as mild abdominal pain or changes in bowel habits, and in rare instances may lead to obstruction or bleeding if the cyst erodes into the bowel lumen [2].

A document by chuangye zhang. Click on the document to view its contents.

Central Diabetes Insipidus and Brain Herniation Secondary to Cryptococcal Meningitis in a DogOwen Hurst, DVM1; Alicia Mastrocco, DVM, DACVECC2; Jennifer Prittie, DVM, DACVECC, DACVIM2Affiliations:Friendship Hospital for Animals, 5025 Wisconsin Avenue, Washington, D.C., 20009Schwarzmann Animal Medical Center, 510 East 62ndStreet, New York, New York, 10065Corresponding Author: Owen Hurst, DVM; email: owenhurstdvm@gmail.comAll authors contributed to data curation and manuscript drafting and editing. Drs. Prittie and Mastrocco contributed to conceptualization and supervision. Dr. Hurst contributed to investigation and methodologies.

A document by Hem Prajapati. Click on the document to view its contents.

Left Bundle Branch Area Pacing for Pacing-Induced Cardiomyopathy: A Case ReportMengqi Yeh1,Shunsong Chen1,Shanshan He1,Ke Liu1,Kai Yang1,Jiang Wang1,Zhiying Zhao1,Feiyan Shang1,Jinrui Guo11Fuwai Yunnan Hospital, Chinese Academy of Medical Sciences, Affiliated Cardiovascular Hospital of Kunming Medical University, Kunming, 650102, China.Corresponding author: Jinrui Guo. Email: Sailor2k@163.comFunding:  The authors received no specific funding for this work.Keywords:  Left Bundle Branch Area Pacing; Right Ventricular Pacing; Pacing-Induced Cardiomyopathy; Permanent Pacemaker Implantation.Summary: High-burden right ventricular pacing induced cardiomyopathy in a 47-year-old male; upgrading to left bundle branch area pacing resolved symptoms and restored cardiac function.Abstract : Long-term high-burden right ventricular pacing (RVP) is a recognized cause of pacing-induced cardiomyopathy (PICM). We present a case of a 47-year-old male with third-degree atrioventricular block and >99% RVP burden, who developed PICM five years after dual-chamber pacemaker implantation, manifesting as exertional dyspnea and a reduced left ventricular ejection fraction (LVEF) of 35%. After upgrading to left bundle branch area pacing (LBBAP), his symptoms resolved, and significant improvements in echocardiographic parameters and NYHA functional class were sustained at 2-month, 6-month, and 1-year follow-ups.

Introduction:Post-infectious cerebellitis (PIC) is defined as cerebellar inflammation induced by immune-mediated mechanisms triggered by viral or bacterial infections (1). Immune-mediated pathophysiological mechanisms frequently impact the cerebellum, resulting in progressive ataxia characterized by dysmetria in both motor and cognitive functions(2). Most of the patients present to the clinics with gait ataxia often associated with limb incoordination and oculomotor ataxia (3). PIC predominantly affects young children following an infectious episode, typically a viral infection, with varicella being the most common cause and rarely affecting the adult population with only a handful of cases reported in the literature(4). Herein we report a rare case of PIC in a 60-year-old male who presented with severe acute ataxic syndrome and opsoclonus in the bilateral eyes without any neuroimaging findings and antibodies in serum relevant to acute cerebellar ataxia.

IntroductionBimaxillary orthognathic surgery (BOMS) serves as a standard approach for correcting severe skeletal-dental discrepancies, such as Class III malocclusion, significantly enhancing masticatory function, facial aesthetics, and patients’ quality of life(1).However, arch space deficiency affects 30-40% of BOMS candidates, complicating preoperative planning, particularly when impacted wisdom teeth are positioned in the mandibular lesser segment, necessitating extraction to ensure postoperative fixation stability(2, 3). The prevalence of impacted third molar impaction in the general population is approximately 27%, but in orthognathic patients with arch space deficiency, this rate exceeds 50%, potentially leading to complications such as root displacement, bone volume loss, and occlusal instability(3, 4).Recent advancements in virtual surgical planning (VSP) and 3D-printed surgical guides have increased intraoperative accuracy by up to 25% and reduced operative time, which is crucial for managing complex cases like extraction from the lesser segment(5, 6).Recent studies demonstrate the superiority of VSP over traditional methods in transferring planning to the intraoperative phase, with mean errors below 1 mm in three-dimensional displacements(7).Despite these benefits, case reports on the application of 3D guides in combining severe arch space deficiency and third molar extraction during BOMS remain limited to fewer than 5 in the recent literature, highlighting a significant knowledge gap(8).This case report describes the innovative application of a 3D-printed surgical guide for safe and minimally invasive extraction of a third molar from the lesser segment during BOMS in a 19-year-old female patient. By emphasizing bone volume preservation and enhanced surgical precision, this case not only addresses rare structural challenges but also provides a practical and educational model for surgeons, justifying its publication for advancing clinical standards in oral and maxillofacial surgery.

A document by Yu-Sun Guo. Click on the document to view its contents.

A document by Taha Negahdari. Click on the document to view its contents.

Abdominal Wall Tumor Excision and Reconstruction Using a Pedicled Anterolateral Thigh Fasciocutaneous Flap: A Case ReportAuthors:Dr. V. Paramanathan¹, Dr. Gayan Ekanayake¹, Dr. Shathir Ahamed¹ ¹Plastic & Reconstructive Surgery Division, National Hospital of Sri LankaCorresponding Author:Dr. V. Paramanathan Senior Registrar Plastic Surgery Plastic & Reconstructive Surgery Division National Hospital of Sri Lanka Email: abdenathan916@gmail.com