Genetic aberrations of homologous recombination repair pathways in prostate cancer: The prognostic and therapeutic implications.

Prostate cancer (PC) is the second most common cancer in men worldwide. Homologous recombination repair (HRR) gene defects have been identified in a significant proportion of metastatic castration-resistant PC (mCRPC) and are associated with an increased risk of PC and more aggressive PC. Importantly, it has been well-documented that poly ADP-ribose polymerase (PARP) inhibition in cells with HR deficiency (HRD) can cause cell death. This has been exploited for the targeted treatment of PC patients with HRD by PARP inhibitors. Moreover, it has been shown that platinum-based chemotherapy is more effective in mCRPC patients with HRR gene alterations. This review highlights the prognosis and therapeutic implications of HRR gene alterations in PC.

A Case of Linear Scleroderma in a Young Child: A Diagnosis Easily Missed in Primary Care.

BACKGROUND This case illustrates the challenges in diagnosing linear scleroderma (LS) in a child who presented to a primary care setting. Diagnosis of LS is easily missed due to the lack of prominent symptoms, subtle visible skin changes, and under-recognition of this condition. CASE REPORT A 7-year-old boy presented with a linear, painless, non-itchy rash at the center of his forehead, which has been present for 6 months. The rash extends vertically from the hairline to the bridge of the nose. The color gradually evolved from reddish to purplish-grey and shiny within 3 months. He had underlying eczema, allergic rhinitis, and allergic conjunctivitis since birth. His condition remained unrecognized despite consultations with various medical specialties, including family medicine specialist, ophthalmologist, otorhinolaryngologist, and a general pediatrician. Six months after the onset of his lesion, he was subsequently referred to a pediatric dermatologist and pediatric rheumatologist, who made the diagnosis of LS. Laboratory investigations for autoimmune disease showed that negative antinuclear antibodies (ANA) and inflammatory markers, including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), were normal. Skin biopsy provided a tissue confirmation of the diagnosis. MRI of the lesion showed no extension into the underlying muscle or bone erosions. The patient was initially treated with intravenous (IV) methylprednisolone for 3 days, followed by oral methotrexate weekly and prednisolone. The lesion improved after 1 month of treatment, and after 15 months it was less pigmented and less noticeable. CONCLUSIONS LS is the commonest form of localized scleroderma in children. LS on the forehead can erode into the underlying tissues and is sometimes associated with extensive hemifacial atrophy. Treatment should be instituted early to prevent late irreversible fibrotic sequelae. This report aims to highlight the importance of early diagnosis and treatment of an uncommon but potentially disfiguring condition.

Primary Nasopharyngeal Tuberculosis: A Diagnostic Challenge.

Introduction: Primary nasopharyngeal tuberculosis (NPTB) is a rare disease but should not be missed as one of the differential diagnoses for cervical lymphadenopathy or nasopharyngeal mass. Case Report: We describe a case of a 38 year old lady, who presented with bilateral cervical lymphadenopathy associated with intermittent fever. Nasoendoscopy examination and computed tomography scan of the neck revealed a centrally located mass predominantly at the left posterior nasopharyngeal wall without obliteration of both fossae of Rosenmuller. Typical histopathological features of necrotizing granulomatous lymphadenitis together with the common clinical presentation of cervical lymphadenopathy and nasoendoscopy findings of nasopharyngeal mass conclude the diagnosis of nasopharyngeal tuberculosis. With anti-tuberculous therapy, the cervical lymphadenopathy and nasopharyngeal mass were completely resolved. Conclusion: Nasopharyngeal tuberculosis is an uncommon disease with great diagnostic challenges and with early diagnosis and adequate treatment, NPTB carries a good prognosis with complete disease resolution.

Artificial Intelligence (AI) in Breast Imaging: A Scientometric Umbrella Review.

Artificial intelligence (AI), a rousing advancement disrupting a wide spectrum of applications with remarkable betterment, has continued to gain momentum over the past decades. Within breast imaging, AI, especially machine learning and deep learning, honed with unlimited cross-data/case referencing, has found great utility encompassing four facets: screening and detection, diagnosis, disease monitoring, and data management as a whole. Over the years, breast cancer has been the apex of the cancer cumulative risk ranking for women across the six continents, existing in variegated forms and offering a complicated context in medical decisions. Realizing the ever-increasing demand for quality healthcare, contemporary AI has been envisioned to make great strides in clinical data management and perception, with the capability to detect indeterminate significance, predict prognostication, and correlate available data into a meaningful clinical endpoint. Here, the authors captured the review works over the past decades, focusing on AI in breast imaging, and systematized the included works into one usable document, which is termed an umbrella review. The present study aims to provide a panoramic view of how AI is poised to enhance breast imaging procedures. Evidence-based scientometric analysis was performed in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guideline, resulting in 71 included review works. This study aims to synthesize, collate, and correlate the included review works, thereby identifying the patterns, trends, quality, and types of the included works, captured by the structured search strategy. The present study is intended to serve as a "one-stop center" synthesis and provide a holistic bird's eye view to readers, ranging from newcomers to existing researchers and relevant stakeholders, on the topic of interest.

Homologous recombination repair gene mutations in Malaysian prostate cancer patients.

Genetic alterations in the homologous recombination repair (HRR) genes are associated with an increased risk of prostate cancer development, and patients harboring these mutations can benefit from targeted therapy. The main aim of this study is to identify genetic alterations in HRR genes as a potential target for targeted treatment. In this study, targeted next generation sequencing (NGS) is used to analyze mutations in the protein-coding regions of the 27 genes involved in HRR and mutations in hotspots of 5 cancer-associated genes in four FFPE samples and three blood samples from prostate cancer patients. We identified two mutations in TP53 and KRAS. We also identified four conflicting interpretations of pathogenicity variants in BRCA2, STK11 genes and one variant of uncertain significance in the RAD51B gene. In addition, we detected one drug response variant in TP53, and two novel variants in CDK12 and ATM. Our results revealed some actionable pathogenic and potential pathogenic variants that may be associated with response to the Poly (ADP-ribose) polymerase (PARP) inhibitor treatment. More studies in a larger cohort are needed to evaluate and determine the association of HRR mutations with prostate cancer.

Colesional cutaneous talaromycosis (penicilliosis) and Kaposi sarcoma in an HIV-infected patient.

HIV-infected patients are at high risk of multiple pathologies. Accurate identification of multiple colesional pathologies is critical for the patient management. We report a distinctive case of colesional cutaneous talaromycosis and Kaposi sarcoma. Prudent histopathological examination and judicious use of adjunct diagnostic test are essential for the diagnosis.

A Case Report of Pityriasis Lichenoides-Like Mycosis Fungoides in Children: A Challenging Diagnosis.

Primary cutaneous lymphomas are rare diseases among the general population, and even rarer in children. Mycosis fungoides (MF) is the most commonly diagnosed form in childhood. Several atypical clinical variants of MF have been reported, and pityriasis lichenoides-like MF (PL-like MF) is a recently described subtype. We report about a rare case of PL-like MF in an 11-year-old Malay boy with a 2-year history of multiple scaly erythematous papules associated with progressive and generalized hypopigmentation. This case report illustrates the significant dilemma in the diagnosis of the disease, particularly in the early stages, because its symptoms can mimic those of many common childhood inflammatory skin disorders. Later, the widespread hypopigmentation obscured the characteristic lesions, leading to misdiagnosis. Moreover, due to unfamiliarity of the disease, the diagnosis of PL-like MF was missed and delayed until only 2 years after the onset of the dermatosis. Therefore, primary care practitioners must have a high index of suspicion for this cutaneous neoplasm in children with persistent or worsening skin lesions, not responding to standard therapy, to ensure timely referral, diagnosis, and treatment.

Impact of the COVID-19 pandemic on cytology practice: An international survey in the Asia-Pacific region.

BACKGROUND: The purpose of the current study was to examine the impact of coronavirus disease 2019 (COVID-19) on various aspects of cytology practice in the Asia-Pacific region. METHODS: An online questionnaire was distributed to cytopathology laboratories in 24 Asia-Pacific countries to explore the impact of restrictive measures on access to health care, use of general and personal protective equipment (PPE), and changes in cytology workflow and workload from February to April 2020. RESULTS: A total of 167 cytopathology laboratories from 24 countries responded to the survey; the majority reported that restrictive measures that limited the accessibility of health care services had been implemented in their cities and/or countries (80.8%) and their hospitals (83.8%). The respondents noted that COVID-19 had an impact on the cytologic workflow as well as the workload. Approximately one-half of the participants reported the implementation of new biosafety protocols (54.5%) as well as improvements in laboratory facilities (47.3%). Rearrangement or redeployment of the workforce was reported in 53.3% and 34.1% of laboratories, respectively. The majority of the respondents reported a significant reduction (>10%) in caseload associated with both gynecological (82.0%) and nongynecological specimens (78.4%). Most laboratories reported no significant change in the malignancy rates of both gynecological (67.7%) and nongynecological specimens (58.7%) compared with the same period in 2019. CONCLUSIONS: The results of the survey demonstrated that the COVID-19 pandemic resulted in a significant reduction in the number of cytology specimens examined along with the need to implement new biosafety protocols. These findings underscore the need for the worldwide standardization of biosafety protocols and cytology practice.

Protective effect of Tualang honey against cadmium-induced morphological abnormalities and oxidative stress in the ovary of rats.

BACKGROUND: To investigate the protective effects of Tualang honey against the toxicity effects induced by cadmium (Cd) on the ovary. METHODS: A total of 32 female Sprague Dawley rats were taken and randomly divided into four groups (n = 8). Throughout the experimental period of 6 weeks, negative control-NC (vehicle deionized water), positive control-CD (Cd at 5 mg/kg), Tualang honey followed by Cd exposure-TH (Tualang honey at 200 mg/kg and Cd at 5 mg/kg) and Tualang honey control-THC (Tualang honey at 200 mg/kg) groups, were administered orally on a daily basis. RESULTS: Rats exposed to Cd were significantly higher in ovarian weight, number of antral and atretic follicles as compared to the NC group. The disruptive effects of Cd on ovarian follicles were associated with a disruption in gonadotropin hormones and decreases in follicular stimulating hormone (FSH) and luteinizing hormone (LH). Moreover, a significant formation of oxidative stress in ovarian Cd-exposed rats has been proven by increasing the level of lipid peroxidation products (malondialdehyde) and decreasing the levels of enzymatic antioxidant (catalase). Interestingly, a daily supplementation of high antioxidant agents such as Tualang honey in these animals, caused significant improvements in the histological changes. Additionally, less atretic follicles were observed, restoring the normal level of LH and FSH (P < 0.001), and normalizing the ovarian malondialdehyde (P < 0.05) and catalase levels in comparison with CD group (P < 0.05). CONCLUSIONS: Tualang honey has protective effects against Cd-induced ovarian toxicity by reducing morphological abnormalities, restoring the normal levels of gonadotropin hormones and stabilizing equilibrium levels of lipid peroxidation and antioxidant enzyme in ovaries of rats.

Solid variant of papillary thyroid carcinoma in a 14-year-old girl.

Solid variant of papillary thyroid carcinoma (PTC) is a rare, poorly characterised variant and predominantly reported in children with a history of radiation exposure. This variant has a high propensity for extra-thyroidal extension and cervical lymph node metastases. A 14-year-old Malay girl who had no history of radiation exposure, presented with multiple cervical lymphadenopathy and it was clinically suspicious for tuberculosis or lymphoma. An incisional biopsy revealed a metastatic PTC. The patient underwent total thyroidectomy with bilateral lateral neck dissection and histopathology report was solid variant of PTC. Whole-body I(131) scan was performed which revealed an intense tracer uptake in the neck. She was planned for radioactive iodine ablation and now on regular follow-up for monitoring of possible tumour metastasis.