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1.
J Neurol ; 271(7): 4620-4627, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38772930

ABSTRACT

BACKGROUND: Brachial amyotrophic diplegia (BAD) is typically linked to a neurodegenerative etiology such as amyotrophic lateral sclerosis (ALS). Clinical and serological characterizations of paraneoplastic neurologic syndromes resembling BAD are limited. METHODS: A retrospective chart review of patients with BAD-like presentations was conducted. Clinical/paraclinical features of paraneoplastic BAD and neurodegenerative BAD cases were compared. RESULTS: Between 2017 and 2023, 13 cases of BAD were identified, of these 10 were neurodegenerative BAD (ALS variant), and 3 cases associated with paraneoplastic autoimmunity. An additional paraneoplastic BAD case diagnosed in 2005 was included. LUZP4-IgG was detected in all four paraneoplastic cases, with coexisting KLHL11-IgG in three cases and ANNA1 (anti-Hu)-IgG in one case. Out of the four paraneoplastic cases, two patients had seminoma, while the remaining two had limited cancer investigation. Three patients exhibited bi-brachial weakness as the initial symptom before the onset of brainstem symptoms or seizures. Compared to BAD patients with a neurodegenerative etiology, a higher proportion of paraneoplastic cases had ataxia (75% vs 0%, p = 0.011). Other clinical features only detected in the paraneoplastic BAD group were vertigo (n = 2), hearing loss (n = 2) and ophthalmoplegia (n = 2). Electrodiagnostic studies in these patients revealed cervical myotome involvement, supportive of motor neuronopathy. All paraneoplastic cases but none of the neurodegenerative BAD cases exhibited inflammatory cerebrospinal fluid (CSF) findings (lymphocytic pleocytosis and/or supernumerary oligoclonal bands; p = 0.067). Despite the administration of immunotherapy and/or cancer treatment, none of the paraneoplastic patients reported clinical improvement. DISCUSSION: BAD or bi-brachial neurogenic weakness is a rare phenotypic presentation associated with paraneoplastic autoimmunity. Co-existing features of brainstem dysfunction or cerebellar ataxia should prompt further paraneoplastic evaluation. Common serological and cancer associations among these cases include LUZP4-IgG and KLHL11-IgG, along with testicular germ cell tumors, respectively.


Subject(s)
Paraneoplastic Syndromes, Nervous System , Humans , Male , Middle Aged , Retrospective Studies , Aged , Female , Paraneoplastic Syndromes, Nervous System/immunology , Paraneoplastic Syndromes, Nervous System/diagnosis , Paraneoplastic Syndromes, Nervous System/blood , Adult , Autoantibodies/blood , Brachial Plexus Neuropathies/etiology , Brachial Plexus Neuropathies/diagnosis , Brachial Plexus Neuropathies/physiopathology , Carrier Proteins
2.
Ann Med Surg (Lond) ; 85(6): 2474-2479, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37363505

ABSTRACT

Breast cancer is the most common malignancy in women and represents a leading cause of cancer-related mortalities. Females' awareness toward breast cancer is essential for the early diagnosis and detection especially in low and middle-income countries. This study aims to assess the awareness of breast cancer risk factors among females in the Syrian Coast. Methodology: An online cross-sectional survey was conducted among Syrian females during the COVID-19 pandemic. The questionnaire used in the study was derived from the Cancer Research UK questionnaire and modified to fit the perspective of the study. Statistical Package for Social Sciences (SPSS) was used for data analysis. The independent samples t-test and the one-way analysis of variance (ANOVA) were applied to determine whether there is statistical evidence or any statistically significant differences between the variables. Results: A total of 1305 females participated in the study. The majority aged between 18 and 25, (28.8%) of the participants obtained their information related to breast cancer from internet, (36.7%) of were smokers and (82.8%) had a family member with breast cancer. These results suggested a significant correlation between smoking, family history of cancer, marital status, and breast cancer awareness. Conclusion: This study showed which factors are significantly related to women's awareness of breast cancer risk factors. These results can contribute in the implementation of awareness programs and campaigns, thus raising the level of awareness among women.

3.
Ann Med Surg (Lond) ; 85(5): 2198-2202, 2023 May.
Article in English | MEDLINE | ID: mdl-37228974

ABSTRACT

Burkitt's lymphoma (BL), an aggressive kind of non-Hodgkin's B-cell lymphoma. On the other hand, appendiceal carcinoid tumors are uncommon neuroendocrine neoplasms. Case presentation: The authors report a case of a 15-year-old Syrian adolescent who was admitted to our hospital due to a persistent, severe generalized abdomen pain accompanied by nausea, vomiting, loss of appetite, and inability to pass stool or gas. An abdominal radiograph revealed dilated intestinal loops with air-fluid levels. The patient underwent emergency surgery through which a retroperitoneal mass was removed as well as part of the ileum and the appendix. The final diagnosis was consistent with intestinal BL associated with an appendiceal carcinoid tumor. Discussion: The correlation between gastrointestinal carcinoids and other types of tumors was frequently reported. However, there have been few reports of carcinoid tumors being associated with lymphoreticular system cancers. BLs were classified into three variants: endemic, sporadic, and acquired immunodeficiency-associated BL while appendiceal neuroendocrine tumors were classified as the following: well-differentiated neuroendocrine tumors with benign or uncertain malignant potential; well-differentiated neuroendocrine carcinoma with low malignant potential; and mixed exocrine-neuroendocrine carcinoma. Conclusion: Our article demonstrates an unusual association between BL and an appendiceal carcinoid tumor that highlights the significant role of histological and immunohistochemical staining in confirming the diagnosis, as well as the role of surgery in treating the complications of intestinal BLs.

4.
Ann Med Surg (Lond) ; 85(4): 1047-1050, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37113891

ABSTRACT

Granulomatosis with polyangiitis (GPA) is a rare, immunologically mediated systemic vasculitis that presents as an aseptic necrotizing granulomatous inflammation of the small and medium vessels. Case presentation: The authors report the case of a 47-year-old Syrian female smoker who was admitted to the hospital due to painless palpable masses in her left cheek and left upper lip. Her medical and family histories were unremarkable. Physical examination demonstrated facial asymmetry and bulging in the left cheek and left suborbital region, with marked limitation of the mouth opening and notable oozing from the maxillary sinus seen within the area of the extracted second premolar, in addition to swelling in the parotid gland region, which caused facial nerve weakness. Lab findings were significant for an elevated neutrophil count (16 400/mm3) and positivity of Cytoplasmic- Antineutrophil Cytoplasmic Autoantibody (c-ANCA). Microscopic examination revealed noncaseating necrotizing granulomas surrounded by histocytes and multinucleated giant cells. The disease kept its local invasion going despite the treatment with cyclophosphamide. Thus, surgical debridement was considered a notable improvement. Discussion: GPA is a systemic disease that usually affects multiple organs, especially the kidneys and the upper and lower respiratory tracts. The diagnosis of GPA is made based on a biopsy and the presence of c-ANCA. The treatment of GPA is patient-adjusted, and it usually consists of two major phases: induction and maintenance. However, surgery is preferred for patients who do not respond to pharmacotherapy. Conclusion: This article demonstrates a rare case of GPA in the head and neck region; that highlights the significant role of c-ANCA and histological exam in confirming the diagnosis as well as the importance of surgery when the disease is intractable.

5.
Ann Med Surg (Lond) ; 80: 104170, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35855881

ABSTRACT

The objective: this study aims to investigate the relationship between folic acid and colorectal cancer (CRC). Methods: google scholar, Pubmed, Pubmed central were searched from 1994 to 2022 for articles on the association between folic acid and CRC using the combinations: folic acid and colorectal cancer risk, folic acid and colorectal cancer survival, folic acid and colorectal cancer recurrence. Main message: to describe and discuss the effect that folic acid might play on colorectal cancer (CRC) risk, recurrence and survivals, taking into account the possible differences between the men and women. Conclusion: Our article supports the idea that says: vit-B9 has a dual-modulator effect on CRC carcinogenesis. However, its role in preventing recurrence and improving survival rates remains unresolved with a possible potential role of folate metabolism genotype variations. Therefore, more evidence from clinical studies is needed.

6.
Ann Med Surg (Lond) ; 79: 104085, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35860076

ABSTRACT

Introduction and importance: Anaplastic Large-cell Lymphoma (ALCL) is a rare but aggressive type of NHL that develop from mature post-thymic T-cells. ALCL constitutes approximately 2% of all lymphoid neoplasm. It is typically found among children and young adults, accounting for 10-15% of pediatric NHL, compared to 2% of adult NHL. Case presentation: A 12-year-old Syrian boy was admitted to our hospital due to epistaxis, anorexia, weight loss and night sweats. The physical examination revealed preauricular, postauricular and submandibular lymphadenopathy. Pathological examination of the biopsy suggested Classical Hodgkin Lymphoma. Later on, Immunohistochemistry staining confirmed the diagnosis of ALK-negative Anaplastic Large Cell Lymphoma. Clinical discussion: Systemic ALCL can be categorized into two major groups based on the expression of Anaplastic Lymphoma Kinase (ALK) protein: Systemic ALK + positive and Systemic ALK-negative. The majority of pediatric cases show an overexpression of (ALK), however, pediatric ALK-negative ALCL can occur in rare cases. Conclusion: The aim of this article is to report a rare case of pediatric ALK-negative anaplastic large cell lymphoma that developed a rapid & aggressive growth within a few months despite the chemotherapy treatment and unfortunately led to the patient's death.

7.
Ann Med Surg (Lond) ; 77: 103664, 2022 May.
Article in English | MEDLINE | ID: mdl-35638022

ABSTRACT

Introduction: primary neuroendocrine cancer of the breast (NECB) is a very rare entity, comprising less than 0,1% of all breast tumors. It was first reported in 1977 by cubilla et al. Case presentation: we report the case of a 60-year-old rural Syrian female who admitted to our hospital due to a painless lump in her right breast. Radiological & clinical findings were highly indicative of breast carcinoma. Therefore, a partial biopsy was performed and microscopic examination suggested the diagnosis of neuroendocrine carcinoma of the breast, which was confirmed by immunohistochemical staining. Lab findings were also indicative for anemia & thrombocytosis. Clinical discussion: neuroendocrine tumors are usually seen in the intestine & lungs. However, their presence as primary tumors in the breast is extremely rare. Conclusion: our article demonstrates a challenging case of primary neuroendocrine breast carcinoma with paraneoplastic thrombocytosis, which clarifies the major diagnostic & therapeutic approaches used in its management.

8.
Oxf Med Case Reports ; 2022(3): omac027, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35316995

ABSTRACT

Metaplastic breast carcinoma (MBC) is a diverse group of invasive breast carcinoma, in which the neoplastic epithelium differentiates toward squamous cells or mesenchymal looking elements, including but not restricted to spindle, osseous and chondroid cells. MBC was formally considered a distinct pathological pattern by WHO classification of breast tumors in 2000. We report the case of a 49-year-old Syrian female who presented to our hospital due to a painful huge mass in her right breast. Radiographic and clinical findings were highly indicative of breast carcinoma. Therefore, a core needle biopsy was performed, and surprisingly, microscopic examination suggested the diagnosis of soft tissue sarcoma, whereas immune stains confirmed the diagnosis of metaplastic carcinoma. We aim to introduce a challenging case that clarifies the rarity of this tumor, and the methods we used in diagnosing, examining and treating this malignancy.

9.
BMC Womens Health ; 21(1): 396, 2021 11 25.
Article in English | MEDLINE | ID: mdl-34823507

ABSTRACT

BACKGROUND: Apocrine carcinoma is a rare tumor that constitutes < 4% of all breast malignancies, characterized by the proliferation of large atypical cells with strictly defined borders, abundant eosinophilic cytoplasm, large nuclei, and prominent nucleoli in more than 90% of tumor cells. Triple-negative apocrine carcinoma is a rare molecular subtype that constitutes less than 1% of triple-negative breast cancers and is characterized by negative expression of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor, with positive expression of androgen receptor. CASE PRESENTATION: We report a case of a 45-year-old Syrian female who presented to our hospital due to a painless palpable mass in her left breast. Following physical and radiological examinations, an excisional biopsy was performed. Microscopic examination of the specimen followed by immunohistochemical staining revealed the diagnosis of a triple-negative apocrine carcinoma. CONCLUSION: Triple-negative apocrine carcinoma is an extremely rare neoplasm that must be considered in the differential diagnoses of breast lesions through detailed clinical, histological, and immunohistochemical correlations. In our manuscript, we aimed to present the first case report of a Syrian female who was diagnosed with a triple-negative apocrine carcinoma, aiming to highlight the importance of detailed clinical, histological and immunohistochemical correlations with a detailed review of diagnostic criteria, molecular characteristics, and treatment recommendations.


Subject(s)
Breast Neoplasms , Carcinoma , Triple Negative Breast Neoplasms , Biomarkers, Tumor , Female , Humans , Immunohistochemistry , Middle Aged , Syria , Triple Negative Breast Neoplasms/diagnostic imaging
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