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Domestic mixed-dust pneumoconiosis: A case report and literature review.

ABSTRACT: Background:Mixed-dust pneumoconiosis (MDP) is a controversial disease with respect to diagnostic criteria. Usually, it is regarded as an occupational disease, but cases due to domestic exposure have been reported. In domestic settings, different dust sources may contribute individually or collectively to the pathogenesis. Case presentation:A 56-year-old woman presented with chest nodularity on chest X-ray examination that had not resolved after 6 months of tuberculosis (TB) treatment. Her history showed significant exposure to mixed dusts caused by grinding grains with stones and the use of biomass fuel. Conclusion:In residential settings, sufficient exposure to a variety of dusts, primarily silica-based dusts as well as those containing other less-fibrogenic materials, such as carbon, silicates and iron, have been shown to cause mixed-dust pneumoconiosis. In settings where the incidence of TB is very high, such as South Africa, the diagnosis of MDP might be overlooked due to the similarities of both diseases in their radiological presentations, especially when a detailed history of domestic exposure is omitted.

SUBMITTER: Al Badri FM

PROVIDER: S-EPMC6928373 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Domestic mixed-dust pneumoconiosis: A case report and literature review.

Al Badri Faisal Mubarak FM Adams Shahieda S

Respiratory medicine case reports 20191213

<h4>Background</h4>Mixed-dust pneumoconiosis (MDP) is a controversial disease with respect to diagnostic criteria. Usually, it is regarded as an occupational disease, but cases due to domestic exposure have been reported. In domestic settings, different dust sources may contribute individually or collectively to the pathogenesis.<h4>Case presentation</h4>A 56-year-old woman presented with chest nodularity on chest X-ray examination that had not resolved after 6 months of tuberculosis (TB) treatm ...[more]

PMID: 31890560

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Project description:Objective: The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease. Methods: The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched. The search time limit, using "3p deletion syndrome" and "BRPF1" as keywords, was from the creation of the database up to June 2020. Related data were reviewed. Results: The proband was a male child with general developmental and intellectual disabilities, special facial features and congenital heart disease. The child was the parents' first pregnancy and first born. Gene microarray analysis showed a 10.095 Mb deletion in the 3p26.3-p25.3 region, resulting in a heterozygous mutation of the BRPF1 gene; thus, the patient was diagnosed with 3p deletion syndrome. At the time of diagnosis, the child was 1 year of age and was responding to comprehensive rehabilitation training. A total of 29 well-documented cases were found in the literature, of which 19 cases had an onset within 1 year of birth, and mainly manifested with mental and motor development disabilities and abnormal facial features, with different gene deletions, depending on the size and location of the 3p deletion. Conclusion: The genetic test results of the child in this study indicated a heterozygous deletion of the BRPF1 gene on the short arm of chromosome 3, which was a unique feature of this study, since it was rarely mentioned in other reports of 3p deletion syndrome. The clinical phenotype of this syndrome is complex as it can include intellectual and motor development backwardness, low muscle tone, certain abnormal facial features (low hairline, bilateral ptosis, widely spaced eyes, a forward nose, left ear auricle deformity, a high-arched palate, a small jaw), and the deformation of systems such as the gastrointestinal tract and the urinary tract malformation or symptoms of epilepsy. As clinical manifestations can be relatively mild, the syndrome is easy to miss or misdiagnose. Clinical workers need to be aware of this disease when they find that children have special features, such as stunted growth, low muscle tone or ptosis, and it needs to be diagnosed through genetic testing. Most children are able to develop certain social skills after rehabilitation treatment.

Project description:BackgroundMucinous cystadenocarcinoma (MCA) mainly occurs in the ovary, pancreas, and appendix, whereas the breast is a rare primary site of occurrence. Invasive ductal carcinoma (IDC) is the most common breast malignancy. Only 31 cases of the breast MCA have been reported in the English literature, and the coexistence of MCA and IDC in the breast are rare.Case descriptionHere, we describe a 61-year-old postmenopausal woman with no family history of breast cancer or other breast-related diseases, who presented with a palpable mass in her left breast lasting for 2 months. On ultrasonography examination, the tumor was a cystic-solid lesion with clear boundary. Magnetic resonance imaging (MRI) showed a mass with low signal intensity on T1 weighted imaging and high signal intensity on T2 weighted imaging. Intraoperative frozen sections revealed metastatic tumor cells in one sentinel lymph node (1/4). She then underwent left modified radical mastectomy with axillary dissection. The post-operative pathological examination showed the tumor consisted mostly of MCA (60%), with a small proportion of intermediate-grade IDC. The MCA had a well-demarcated cystic structure with papillary projections and abundant mucoid material. The epithelium lining cystic spaces was tall columnar, with mucin-producing cells that had basally located nuclei. The degree of cytological atypia varied considerably. Axillary lymph nodes were normal (0/15). The MCA was triple-negative for estrogen receptor (ER), progesterone receptor (PR), and HER2, and positive for CK7 but negative for CK20. Through next-generation sequencing, no mutations in the BRCA1 and BRCA2 genes were identified in our case, which was not highlighted in prior cases. After surgery, the patient underwent eight cycles of chemotherapy, and she has been disease-free during the 10-month follow-up. In addition to detailing this instance of mixed MCA and IDC of the breast, we reviewed relevant literature and compare our findings with other patients who had breast MCAs.ConclusionsOur results improved the understanding of mixed MCA and IDC, especially MCA, and provided a basis for its diagnosis and differential diagnosis from other metastatic diseases.

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Domestic mixed-dust pneumoconiosis: A case report and literature review.

Publications

Domestic mixed-dust pneumoconiosis: A case report and literature review.

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